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Article

The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.

Human molecular genetics - 1 Aug 1997

Montermini L, Andermann E, Labuda M, Richter A, Pandolfo M, Cavalcanti F, Pianese L, Iodice L, Farina G, Monticelli A, Turano M, Filla A, De Michele G, Cocozza S

Abstract excerpt

The most common mutation causing Friedreich ataxia (FRDA), an autosomal recessive neurodegenerative disease, is the hyperexpansion of a polymorphic GAA triplet repeat localized within an Alu sequence (GAA-Alu) in the first intron of the frataxin (X25) gene. GAA-Alu belongs to the AluSx subfamily...

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Source

Identifiers

PMID: 9259271
DOI: 10.1093/hmg/6.8.1261

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-9259271-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.PMID 9259271Read ↗

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