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Evolution of the Friedreich’s ataxia trinucleotide repeat expansion: Founder effect and premutations

Friedreich’s ataxia, the most frequent inherited ataxia, is caused, in the vast majority of cases, by large GAA repeat expansions in the first intron of the frataxin gene. The normal sequence corresponds to a moderately polymorphic trinucleotide repeat with bimodal size distribution. Small normal al...

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Main Authors: Cossée, Mireille, Schmitt, Michèle, Campuzano, Victoria, Reutenauer, Laurence, Moutou, Céline, Mandel, Jean-Louis, Koenig, Michel
格式: Artigo
語言:Inglês
出版: The National Academy of Sciences of the USA 1997
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC23842/
https://ncbi.nlm.nih.gov/pubmed/9207112
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