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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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Bibliografische gegevens
Hoofdauteurs: Cossée, Mireille, Schmitt, Michèle, Campuzano, Victoria, Reutenauer, Laurence, Moutou, Céline, Mandel, Jean-Louis, Koenig, Michel
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: The National Academy of Sciences of the USA 1997
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC23842/
https://ncbi.nlm.nih.gov/pubmed/9207112
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