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Article

Phylogenetic analysis of the Friedreich ataxia GAA trinucleotide repeat.

Journal of molecular evolution - 1 Mar 2001

Justice C M, Den Z, Nguyen S V, Stoneking M, Deininger P L, Batzer M A, Keats B J

Abstract excerpt

Friedreich ataxia is an autosomal recessive neurodegenerative disorder associated with a GAA repeat expansion in the first intron of the gene (FRDA) encoding a novel, highly conserved, 210 amino acid protein known as frataxin. Normal variation in repeat size was determined by analysis of more than 600 DNA samples from seven human populations. This analysis showed that the most frequent allele had nine GAA...

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Source

Identifiers

PMID: 11428460
DOI: 10.1007/s002390010151

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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