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Article

Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene.

Human genetics - 1 Jun 1997

Epplen C, Epplen J T, Frank G, Miterski B, Santos E J, Schöls L

Abstract excerpt

Friedreich ataxia (FA) is an autosomal recessive, neurodegenerative disorder characterized by polypurine trinucleotide expansion. The (GAA)n motif is located in intron 18 of the STM7 gene (previously considered as intron 1 of the X25 gene) on chromosome 9q13. We studied the distribution profile of the polymorphic (GAA)n repetitive tract in 178 healthy individuals. The number of repeats of the trinucleotide block...

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Source

Identifiers

PMID: 9187683
DOI: 10.1007/s004390050458

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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