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Article

New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation.

Human genetics - 1 Apr 2004

Monticelli Antonella, Giacchetti Manuela, De Biase Irene, Pianese Luigi, Turano Mimmo, Pandolfo Massimo, Cocozza Sergio

Abstract excerpt

Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder commonly caused by large expansions of a GAA repeat in the first intron of the frataxin gene, FRDA. The expansion of the triplet repeat is localized within an Alu sequence. FRDA GAA-repeat alleles can be divided into...

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Source

Identifiers

PMID: 14767759
DOI: 10.1007/s00439-004-1089-7

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14767759-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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