Protocol for A1298c homozygous

This topic contains 36 replies, has 2 voices, and was last updated by  D 5 months ago.

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  • March 20, 2012 at 1:02 am #1416

    Linda Czarniecki

    Hi Dr. Ben, I was just wondering when you will be posting the protocol for A1298c homozygous? Thank you so much Dr. Ben.

    Linda

    March 20, 2012 at 1:12 am #1418

    Dr Lynch
    Key Master

    Hi Linda –

    I should have it done in 2 weeks.

    Best
    Dr Ben

    April 18, 2012 at 1:26 am #1920

    Terresa

    Hi, I am also Homozygous A1298C and am very interested in your protocol. I’ve been taking metafolin w/ B 2, 6 & 12 for about a year but now hoping for a more specific to A1298C recommendation. Have history of several of your listed MTHFR “symptoms” and I’ve experienced a definite clash of opinions with doctors about handling C677T vs. A1298C. Thanks everso!
    Terresa

    May 29, 2012 at 3:47 pm #2314

    Inessa

    So, where is it (protocol for Homo A1298C)/ My almost 8 eyar old jsut came back positive for twoc opies of A1298C and I am really looking for specific advice on that.
    thanks
    Inessa

    May 31, 2012 at 7:41 pm #2335

    Lynn_M

    Dr. Ben, I’m going to add my own push for you to finish a homozygous A1298C protocol. I’ve held off on notifying my relatives about my homo 1298C results because, instead of just notifying them, I wanted to also be able to direct them to a site that offered a protocol as to what to do. It seems like I’ve seen you mention having such a protocol imminently ready for about six months now.

    I don’t understand the continuing delay. Is it that difficult to say what to do about 1298CC, is there not enough information, are treatments for 1298CC currently in flux, are you waiting on some new research, or are you just short of time?

    May 31, 2012 at 11:48 pm #2337

    Dr Lynch
    Key Master

    Hi Lynn –

    It is a matter of time. I’ve much to do in terms of writing and presentations – it is on my list.

    The reason I haven’t published my 1298CC protocol is because I am questioning the reverse effect it has on biopterin and that methylfolate levels are not affected.

    I think the best thing to do out of the gate is to supplement with vitamin B12 as methylcobalamin and methylfolate – start low and work up. This is regardless of which MTHFR SNP is found. If intolerance is noted due to the methylcobalamin and methylfolate – then there are other SNPs potentially present, inflammation present, GI health not in order or diet/lifestyle not appropriate.

    That is the basic protocol for 1298CC.

    For heterozygous 1298AC – the same applies – just less methylfolate is needed.

    We have to keep in mind that there are more SNP’s of MTHFR being found – and they are also demonstrating need for methylfolate.

    Limiting synthetic folic acid intake is needed for all people – regardless of MTHFR status.

    June 1, 2012 at 1:17 am #2338

    S

    Dr. Ben,

    What is the worst symptoms that one would perceive if they had too much folic acid intake?? I am still in the beginning stages of even understanding these mutations (I found out I was homozygous A1298)…I imagine as a doctor you have to be very careful because you always have to worry about liability issues, us as patients can say basically what we want (hopefully we add our own disclaimer, to be careful) but obviously as a professional, you could held liable much more easily, I don’t know I am just adding my 2 cents.

    With that said, I hope you do find an effective protocol that does seem to help MOST A1298 people across the board, this is scary because it is really expensive to other forms of testing like other methylpathway testing, amino acid testing, hormone testing, heavy metal testing etc….

    Lynn, I know for one that Vitamin C can be really good (I take around 10,000 MG a day, I know it is doing something positive for biopterin..I take a mixture of Ester-C, Buffered Vitamin C with Bioflavanoids/most expensive and sometimes take a cheap off brand so I am not at the store all the time buying vitamin C-(I have no idea how it is effecting the methyl-folate, I seem to need more than the average A1298 person, or so it seems) also L-Arginine seems to be positive but I don’t know for sure I can’t put my stamp on it just yet it is too early….

    June 1, 2012 at 2:34 am #2340

    Lynn_M

    Dr. Ben,

    It’s the thornier issues, such as those you mention – the effect on biopterin and whether methylfolate levels are impacted or not, as well as if folinic acid is okay for A1298Cs, that interest me the most at this point. You’ve done a good job specifying what needs to be done for MTHFR mutations in general. I want to know the distinctions between the effects and treatment of A1298C vs. C677T. So if you need more time to suss out the perplexing and unknown issues, I will wait patiently.

    Regarding new MTHFR SNPs – will your forthcoming genome test include any MTHFR SNPs other than A1298C or C677T?

    June 1, 2012 at 2:57 am #2341

    Dr Lynch
    Key Master

    Lynn –

    I believe that no one truly knows the distinctions between 1298 and 677. We are talking about 1 base change in a gene that is 20,000 bases long. This single base change does affect the shape of the MTHFR enzyme and thus its function.

    Research is needed to suss out the little differentiators between 1298 and 677 and other SNPs.

    I believe that synthetic folic acid is a nightmare for all of us – regardless of MTHFR or not. And folic acid may be a big issue for those with MTHFR SNP’s as it may hinder the enzyme even more.

    If we get our nutrients from whole food and lead a life that does not demand excessive methylation (due to toxin/chemical/stress/GMO’s), then even those with MTHFR mutations are not going to be as severely affected.

    The new gene test will include a new MTHFR SNP that is gaining awareness – yes.

    The big picture is what is needed – and that big picture is a lifestyle and dietary change.

    The refined picture is nice to know – but not truly necessary.

    The more I work with those having MTHFR defects, the more I realize that addressing MTHFR is not really the point. Addressing the whole body and all its biochemical needs and functions is what is necessary. If my client gets stuck focusing on how much methylfolate to take and which SNP they have, they do not get better.

    The clients of mine that get better are those who truly make changes in their life (which many do) and also address each symptom/condition they have in a step-wise fashion – and make ONE change at a time. If more than one change at a time, then it is difficult to understand what benefits or hinders.

    Lab tests are NOT the answer for many of my clients – because labs look at the AVERAGE population; however, labs do have their purpose and I do recommend them – only after some foundational work is done.

    I believe that many people have blinders on now due to methylation defects. They focus so much on them that they forget the bigger picture. I can also state that methylation defects can also identify problem areas in some people that can truly change their life – if addressed properly.

    On another note:
    I want to take a moment to also thank you personally for all your help with the MTHFR.Net Forum. You are helping many people whom I otherwise would neglect simply due to lack of time. Thank you.

    June 4, 2012 at 6:37 am #2375

    Lynn_M

    Dr. Ben,
    As I write out fairly simple answers to people’s questions here, I gain a new sympathy for doctors with busy practices that wind up mostly just writing prescriptions for their patients’ problems. If someone doesn’t even know enough not to take folic acid or cyanocobalamin, which indicates to me that they haven’t read much of anything on this website, my tendency is to say take methylfolate, take methylcobalamin, take other cofactors, but’s it’s more than just supplementation. That would be analogous to throwing a prescription at someone. It takes a lot of time and effort to explain the whole complicated picture, and if the person hasn’t put much effort into understanding their own situation, expecting instead to be spoon fed, then I’m less likely to put much time and effort into my own explanation.

    But there are those of us that devour everything we can and want all the nitty gritty details and complexities. Maybe we’ve already gotten the big picture and have made lifestyle and dietary changes. Maybe we’re not sure what the ideal would be (can anyone be?), nor 100% there, but we want to keep optimizing. As I see it, different folks at different points along their journey need different information.

    I agree with you that it’s too easy to fixate on any particular genome as the cause and answer to any of our problems. It’s easy to overlook all the complicated, interlocking metabolic cycles and unknown physiology and genetic functions, and concentrate on the little we do know. But as you say, sometimes that can open up windows into problem areas and lead to life-altering changes. Lifelong mystery illnesses and symptoms can sometimes be resolved with the right focus. So we keep opening up windows here and there trying to get a grasp on the big picture.

    Thank you for your note of thanks. I have spent a considerable amount of time and energy commenting here. I like the concept of each person can make a difference in this world. This is perhaps my best way to help others. I was told in an Alzheimer’s forum that I write and explain things well, and I’ve always had an interest in biology and things medical. I was not interested in the conventional medical career options that were available years ago, and now that I’m 65, it’s not feasible to make the investment necessary to get into the alternate options now available. So this is my outlet to share what I have learned along the way.

    November 15, 2012 at 12:49 am #5023

    Vanessa

    I am confused. You say that this mutution is serious then offer no protocol. In fact in this thread you say it can be no big deal if someone is taking care of themselves. I am taking care of myself after seeing the naturopath for months. We find out I have this. She wants me to take high levels of methyl folate. I think if you are going to sound the alarms and say this is a serious mutation, you should provide a protocol to go along with it.

    November 15, 2012 at 6:06 pm #5078

    Jodi

    Totally recommend reading this whole book, but look at chapter 6, pages 149-151 to help answer some questions on A1298C. Take note that the pdf pages differ from the actual book page numbers. I am refering to the actual book page numbers, not the pdf page number. http://www.holisticheal.com/media/downloads/autism-pathways-to-recovery-book.pdf

    November 17, 2012 at 6:01 pm #5337

    gcalex

    Vanessa: I am now totally confused too. I can only think that Dr. Lynch’s thinking must have evolved? So does this mean we are wasting our time reading the details of our 23andme/Yasko panels and identifying precise regimens based on specific SNPs, and instead should only focus on the big holistic picture? I don’t know. What do the regulars here think?

    November 18, 2012 at 6:50 am #5405

    Allie

    Just wondering if you guys have watched Dr Ben’s video presentation yet? If not, you really should. One thing mentioned is that the Southern Italians have a high incidence of MTHFR mutations, yet are very healthy. These are people who eat good, basic foods probably grown organically in their backyards, and who live in clean air. Really, what we all should take home from this is that any problems via the mutations are dependent upon lifestyle, and that altering lifestyle is the basic groundwork of any attempt to minimise their impact.

    On the C677T protocol page, you will find a long list of lifestyle recommendations. They are not the kind of things you can address all at once, but being aware that all of these aspects are potentially adversely affecting you, and gradually dealling with them, is the foundation work we all need to do.

    Clearly, if you have particular illness to address then you need to look at this too, but there is little point attempting to find better ways for your body to detox (ie improve methylation)if you are still impacted by a daily diet and lifestyle which is building those toxins up again as fast as you can get rid.

    After reading comments on here for some time, the one thing that becomes apparent to me is that we are all different, there is no one regimen that will suit everyone – even the C677T protocol that was posted is merely a starting point and will need to be adapted more or less by every single person attempting to follow it as they work out what their particular body is ready to handle.

    I hope this helps, and wish you well with your own personal paths through this maze! Allie

    November 19, 2012 at 8:38 pm #5458

    Pamela M

    Just returned here intending to schedule a consult after digesting much last summer. Disappointed that Dr. is closed to new patients and really puzzled by the “lifestyle changes are the key” that suddenly appeared. It seemed to me most posters had done extensive life-style change work and that tact seemed a bit patronizing to me, anyway.

    I for instance, have never smoked, consumed alcohol moderately my entire life, have eaten organically and eschewed meat and anything processed for several years, etc.

    My concerns on learning about my C1298 homogenous mthfr mutation are about anesthesia, which I have had terrible trouble with in the past (heart stopped) and must face again in Dec.

    Also, for my son, who is fighting a lyme variant and M pneumomie (wanting to see if there are any antibiotics he should
    avoid other than those listed here last summer).

    Any words of wisdom from anyone?

    Thank you.

    November 20, 2012 at 3:42 pm #5463

    Jodi

    Allie, I think you said it well. I think Dr. Ben is just trying to make a point that, for those who belive that addressing these gene mutations alone is going to solve all of their problems, it is not. It is about addressing your body as a whole and these gene mutations are just a piece to the puzzle that can help bring chemical processes into place, which will help other things to fall into place. If you read Amy Yasko’s book that I posted above, one will see how she addresses several issues, and not just gene mutations. There are several factors with ones health..ie: gut (bacteria, viruses, pathogens, gut permability, etc…), metal toxicity, food intolerances/sensitivities, gene mutations, diet, lifestyle, and so on… for me, I have addressed several of these over the past 5 years or more. This gene mutation stuff is just another puzzle piece for me. I am hoping by bypassing these mutations with supplementation, my body’s chemical processes will start functioning properly so that other things I have been addressing over the past several years, will fall into place. For me, I havent had great success with all the lifestyle changes I have made. I hope that these gene mutations have been my missing link.
    If we dont lead healthy lifestyles with proper diet for our bodies(paying close attention to food sensitivites as well), and address other areas of disfunction in our bodies, focusing on the gene mutations alone, may not solve alot. but for those who feel that they have done everything they could and still not responding well to anything and feel there is just some missing link, this may be helpful. Bottom line, our body is a whole and functions as a whole, so that is how we need to address it. Not by just one single unit. After all, this is why we have turned to alternative/natural medicine…

    November 28, 2012 at 7:04 pm #5552

    Jodi Solem

    I recently found out that I am A1298c homozygous. I went in for a minor (outpatient) surgery last week and had a bad reaction to the general anesthesia – difficulty coming out of the anesthesia and throwing up every 20 mins and ended up getting admitted overnight. I’ve had anesthesia in the past and never had a reaction like this! I’ve had many medical issues arise within the last year, prompting my doctor to test me for the gene mutation… which is how I found out that I have the 2 copies of the 1298 gene mutation. I have read online that people (with these gene mutations) need to follow certain protocol with anesthesia and such. Is it possible that my severe reaction to the general anesthesia be from the gene mutation?

    December 10, 2012 at 11:50 am #5674

    isa

    Dr. Ben
    I recently found out that I am A1298c homozygous and Gpia C807t. Could you tell me if there is some correlation with implantation failure; What treatment do you suggest;

    Thank you

    December 22, 2012 at 5:33 am #5803

    Teresa Nevins

    Nitrous oxide(laughing gas) can be fatal to MTHFRers.

    August 13, 2013 at 5:28 pm #376762

    paul

    Desperately seeking a protocol for 1298 homozygous. Started myself on Methyl Folate months ago. I take Methyl Life 40 mg per day and Methyl Support which I find effective. Also Hydroxocobalamin approx 4 to 8 mg per day. I realize that these are high dosages but it takes this much for me to feel affects. I know longer suffer from lack of attention and fatigue during the day. However I still cannot get a good night of rest. I sleep at most 5.5 to 6 hours. I am also MAO-A + and take some 5-htp to bolster seratonin at night but my mind is still racing and wakes me up at 3am and it’s very difficult to get back to sleep. I believe that lack of BH4 production may be the cause. Perhaps gabba production is being affected? I have found a supply of BH4 and will try to supplement directly. Please if there is anyone out there who is homozygous 1298 and has serious sleep issues share with me what works to solve this. I have tried EVERY sleep med, and EVERY herbal supplement (including Dr. Teitlebaum’s Sleep Revitalization Formula), hypnosis, acupuncture, and many many others. My lack of sleep leaves me with stiff muscles during the day.

    August 17, 2013 at 1:02 am #376777

    M

    Paul,

    I have 2 copies of A1298C and have sleep issues, but the biggest part of my sleep issues happened after a nose surgery I had (I wonder if this genetic mutation excacerbated it)– One thing that has helped is a CPAP machine as I was diagnosed to have sleep apnea–you may want to get a sleep study and see what this shows, and hopefully you can atleast try a cpap. There are things to help raise the level of BH4 naturally supposably such as Spirulina, Royal Jelly and Lithium Orotate (I have heard that Lithium Orotate can also pull methylfolate out of our system, but I think a couple pills a day of a proffessional grade Lithium Orotate is beneficial for me.)I hope the Hydroxyl B-12 keeps helping. If you want more information on fatigue issues —-I used to follow the “Phoenix Rising” forum and there is good stuff on there. You might want to look into B-12 shots as well as that definitely helps better for fatigue than pill form.

    September 10, 2013 at 2:14 am #377031

    Deb

    Paul,
    I am homozygous A1298C also and take Melatonin with success at night. Too much methylfolate gives me migraines and if I stop it I get depressed. I’m still trying to wade through this problem. Best of luck to you!
    Deb

    September 14, 2013 at 11:15 am #377110

    Steve Thompson

    I’ve just found out that I’m homozygous for MTHFR A1298C, MAO-A R297R and MTRR A66G and heterozygous for COMT V158M and H62H, VDR Fok and Taq, MTRR 11 and CBS C699T.

    I’ve had trouble with sleep for 30 years, sleeping lightly and waking often and early. I suspect some of my aches and pains and my stinging eyes are caused by the lack of deep, restorative sleep. I’ve tried many antidepressants but they just make my sleep worse, particularly the MAOIs.

    In recent months, the other thing I’ve found to disturb my sleep is folate, either natural folate from leafy green vegetables or even small doses of methyl-folate from sublingual tablets. I’ve been taking other B vitamins, in their active forms, for a few months now with no problem. But as soon as I add any folate, my sleep becomes even worse. I really need a couple of nights of good sleep. If you find anything that helps, please let us know.

    Thanks, Steve.

    September 14, 2013 at 5:51 pm #377113

    Chelsea

    I just found out I am homozygous for the A1298c mutation. I’ve been reading as much as I can, and I admit I am skeptical about the seriousness of this. Is it known how common it is in the general population? I am concerned that this might be a new fad that comes and goes as more genetic sequencing shows it is really quite common, and the body has ways of compensating.

    I probably would have brought this up with my doctor, tried supplementation for myself, and held off on anything further. Except we are dealing with severe unexplained GERD and food intolerances with my 3 year old daughter. We have tested her for everything it seems except MTHFR. I am not sure that I want to have her tested with 23andme as I did for myself because A) I have doubts a 3 year old could produce enough saliva to fill the sample container, B) genetic sequencing brings privacy concerns and C) I am not sure that knowing your theoretical “verbal intelligence” or disease risk at 3 years old is a good idea. However, if I saw sufficient evidence that MTHFR could explain her symptoms in a treatable manner I would pursue testing.

    September 18, 2013 at 5:10 pm #377167

    Elle

    Chelsea,

    I am shocked by your post! Shocked, because you are ridiculing this as if it is junk science, obviously without knowing anything about it! If your child has this mutation plus a CBS uptake issue you are delaying help for her. It is she who will pay the price for your skeptism, not you.

    I am thrilled to find out that I have something concrete to deal with, instead of being told there is nothing wrong with me, despite having Ménière’s Disease, tinnitus, hearing loss, anemia, severe migraine headaches, non-restorative sleep, chronic strep infections, hair loss, exhaustion, low stamina, Raynaud’s, Mitral valve prolapse, cystitis and a child who has not felt well for 26 years. She has fainting spellings, headaches, chronic strep, cystitis, hypersomnia, Raynaud’s, and a host of other issues. My mother recently died of Parkinson’s Disease. My father died with emphysema and COPD (did not smoke), heart disease, PAD, Raynaud’s , colon cancer, GERD , etc. Two of my siblings are alcoholics. One sibling is a diabetic, who has fatty liver disease, heart issues and non-Hodgkin’s lymphoma.

    Since I am homozygous for this mutation I can assume I inherited a copy from each of my parents. I also have the CBS uptake issue. I don’t think it is
    a coincidence that so many people in my family just happen to have ailments associated with this mutation.

    My goal is to deal with this to see if I can regain my health and prevent further deterioration. I am having everyone in my family tested and I am going to do
    everything in my power to promote information about this mutation so that people will realize that enriched foods with folic acid are a danger to anyone
    who has this mutation.

    September 19, 2013 at 12:16 am #377173

    Sue Dieffenbach

    Hi Chelsea,
    Most labs now test for MTHFR mutations. You will only get information about whether you are hetero or homozygous for C677T or A1298C but it would be a start for your child.

    September 19, 2013 at 2:42 am #377179

    Chelsea

    Elle, since I wrote that post I have done a lot more research, talked to her doctor, and decided to go ahead with testing if we can find an alternative way of giving a sample to 23and me (I do not think a 3 year can produce that much saliva). We are going to have her 23andme results sent directly to her doctor so she can make the choice whether to see everything later. I was not trying to ridicule, and I don’t think I expressed my concerns clearly. I do not think MTHFR alone can explain such diverse possible symptoms and rare conditions, given how common MTHFR is in the general population (for example, 4-12% of the population is estimated to be homozygous for A1298C). I do acknowledge that epigenetics have a huge influence. I also think there is a lot of potential that MTHFR in combination with other mutations CAN explain many disorders. My concern was that the labs that test for MTHFR only test for MTHFR, and full genotyping brings with it some serious ethical concerns when done on a young child. I think there can be potential problems with parents knowing, for example, their child’s likely “verbal intelligence” based on genetics. I think we have found a way around that though by channeling results through her doctor.

    My main concerns at this point is finding out if GERD is linked to any of these mutations, which ones she has, and what the effects of supplements might be. I look forward to researching this more.

    October 1, 2013 at 7:51 pm #377423

    Becky

    Hi Chelsea,
    Please follow up and let us know what comes of your daughter’s testing. I have a heterozygous mutation on A1298C. My daughter is 2 and she also has GERD. I am also being evaluated in Dec for erhler-danlos syndrome (it’s a genetic connective tissue disorder). Be well, thanks, Becky

    October 2, 2013 at 2:34 am #377428

    Chelsea

    I am currently waiting on a response from 23andme as to how to proceed. It looks like they don’t have a cheek swab any more but they do have a sponge system that may work.

    November 10, 2013 at 4:09 am #378069

    Andrea

    Did you ever publish your recommendations for A1298C?

    I can’t find it anywhere on your site, and I would think it would have some differences from your recommendations for MTHFR C677T. My sister has homozygous A1298C with Parkinson’s and I’d really like to have your basic recommendations to show her doctor, as you wrote for C677T.

    Thanks so much!

    November 11, 2013 at 2:01 pm #378092

    Andrea

    Nor sure if I was clear enough on my last post.

    Does anyone know if Dr. Lynch has published his recommendations for A1298c homozygous?

    If not, can anyone point me towards anything on the web that summarizes what should be done for this mutation?

    Thanks!

    November 18, 2013 at 5:31 pm #378239

    paul

    did you get my follow up post??? I may have found a treatment protocol that works for me completely paul

    November 30, 2013 at 8:10 pm #378453

    Andrea

    Hi Paul – I’m not sure what you mean by a follow up post. Can you give me a link to where your protocol is? Or list it here? Thanks!

    December 16, 2013 at 3:43 pm #379033

    Scarlett

    Hmm it looks like your blog ate my first comment (it was super long) so I guess I’ll just sum it up what I wrote and say, I’m
    thoroughly enjoying your blog. I as well am an aspiring blog writer but I’m still new to the whole thing.
    Do you have any helpful hints for rookie blog writers?
    I’d definitely appreciate it.

    March 20, 2014 at 9:02 pm #380960

    madge

    hi have the recommendations for A1298c homozygous protocol been posted anywhere?

    May 11, 2014 at 4:47 pm #382788

    Amber

    Dr. Lynch,
    My daughter was diagnosed with congenital sucrase isomaltase deficiency, she does not produce the enzymes to break down sugars. There were 4 known sub-types and she was a “new” unknown vairance. We changed her diet and deleting sucrose and maltose helped significantly, however it did not help with her other symptoms, headaches, fatigue, irritability and mood issues, aches and pains,fainting spells, nausea, etc. We visited an endocrinologist who found her antibodies to be high and he felt indicated the possibility of diabetes, but after years of HGB A1C normal results, I lacked confidence in that. The cardiologist felt that she had a sodium deficiency causing her fainting, and a neurologist thought the headaches must be related to her eye sight or nutritional deficiencies.
    So basically no one talked to anyone and no one had any good answers. I had her profile done at 23&me, of course many homogenous mutations. She was homo for MTHFR Rs1476413, rs MTHFR 4846048, MTHFR (LOC100506310), and MTHFR A1298C. I am finding a lot on 677 but I feel lost with this.
    I read in your description article on 1298C that this has to do with breakdown of phenylalanine. With my daughters diagnosis of CSID she consequently, despite my best efforts has more exposure to this than most people, she can only have artificial sugar because she cannot breakdown sucrose, fructose, etc. Is this a major issue for her with this specific gene mutation? What about Stevia, do you think this is an acceptable alternative since it has no phenylalanines and is her risk of developing cancer related to phenylalanine ingestion greater because of her MTHFR 1298C mutation? HELP I am so lost! We eat all organic, gluten-free, stevia at home, and I have her on 2 mg methylfolate and 5 mg methylcobalamin, magnesium, vitamin c, vitamin D3, sodium, probiotic and digestive enzymes. She is 12. I do not buy foods with phenylalanine but if she is out at a movie or out to dinner she will have a diet soda here and there and sugar free treats once in a while. Please advise.

    May 31, 2014 at 11:19 pm #382953

    D

    I too would like to know if Dr Lynch ever wrote the protocol for homozygous A1298C. If so where is it? thanks

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