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Recombinations in Individuals Homozygous by Descent Localize the Friedreich Ataxia Locus in a Cloned 450-kb Interval

Archive ouverte | Rodius, François | CCSD

International audience. The locus for Friedreich ataxia (FRDA), a severe neurodegenerative disease, is tightly linked to markers D9S5 and D9S15, and analysis of rare recombination events has suggested the order cen–...

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

Archive ouverte | Cossée, Mireille | CCSD

International audience. Friedreich's ataxia is the most common inherited ataxia. Ninety-six percent of patients are homozygous for GAA trinucleotide repeat expansions in the first intron of the frataxin gene. The re...

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Archive ouverte | Campuzano, Victoria | CCSD

International audience. Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, X25, was identified in the critical ...

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