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The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13

Archive ouverte | Montermini, Laura | CCSD

By analysis of crossovers in key recombinant families and by homozygosity analysis of inbred families, the Friedreich ataxia (FRDA) locus was localized in a 300-kb interval between the X104 gene and the microsatellite marker FR8 (...

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 ...

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–...

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