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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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Detalhes bibliográficos
Main Authors: Cossée, Mireille, Schmitt, Michèle, Campuzano, Victoria, Reutenauer, Laurence, Moutou, Céline, Mandel, Jean-Louis, Koenig, Michel
Formato: Artigo
Idioma:Inglês
Publicado em: The National Academy of Sciences of the USA 1997
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC23842/
https://ncbi.nlm.nih.gov/pubmed/9207112
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