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Article

Age of the intronic GAA triplet repeat expansion mutation in Friedreich ataxia.

Human genetics - 1 Apr 2000

Colombo R, Carobene A

Abstract excerpt

Friedreich ataxia (FRDA), the most frequently inherited ataxia, is due in the vast majority of cases to a large expansion of an intronic GAA repeat. Using linkage disequilibrium analysis based on haplotype data of seven polymorphic markers close to the frataxin gene, the age of FRDA founding mutational event(s) is estimated to be at least 682+/-203 generations (95% confidence interval: 564-801 g), a dating which...

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Source

Identifiers

PMID: 10830915
DOI: 10.1007/s004390000261

Genes

GAA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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