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Article

A case of Friedreich's ataxia confirmed by DNA-analysis.

Folia medica - 1 Jan 1998

Atanassov N, Markova V

Abstract excerpt

The first case of DNA-confirmed Friedreich's ataxia in Bulgaria is presented. The results from the DNA studies of the index patient revealed two alleles with an expansion between 500 and 1500 repeats of the GAA trinucleotide in the first intron of the X25 gene. The parents had one normal allele with 7-22 repeats and one allele with a similar expansion to that of the patient in the first intron of the X25 gene....

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PMID: 10658348

Genes

GAA

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

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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.Semantic proximity Read ↗

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