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Article

Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat.

American journal of human genetics - 1 Jul 1997

Monrós E, Moltó M D, Martínez F, Cañizares J, Blanca J, Vílchez J J, Prieto F, de Frutos R, Palau F

Abstract excerpt

The Friedreich ataxia (FA) mutation has recently been identified as an unstable trinucleotide GAA repeat present 7-22 times in the normal population but amplified as many as > 1,000 times in FA. Since it is an autosomal recessive disease, FA does not show typical features observed in other dynamic mutation disorders, such as genetic anticipation. We have analyzed the GAA repeat in 104 FA patients and 163 carrier...

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Source

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Identifiers

PMID: 9245990
DOI: 10.1086/513887
PMCID: PMC1715858

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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