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Article

Trinucleotide (GAA)n repeat expansion in two families with Friedreich's ataxia with retained reflexes.

Journal of neurology, neurosurgery, and psychiatry - 1 Dec 1997

Kellett M W, Fletcher N A, Wood N, Enevoldson T P

Abstract excerpt

In occasional families in whom cases of classic Friedreich's ataxia (FRDA) coexist with affected cases with retained reflexes, linkage analysis has shown that both map to the FRDA locus on chromosome 9q13-21.1. A gene X25 has been identified within the critical region of the FRDA locus, and an intronic expanded GAA trinucleotide repeat has been found in most cases of FRDA. We report two further FRDA families in...

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Identifiers

PMID: 9416816
DOI: 10.1136/jnnp.63.6.780
PMCID: PMC2169854

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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