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Article

Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia.

The Journal of molecular diagnostics : JMD - 1 Nov 2004

Ciotti Paola, Di Maria Emilio, Bellone Emilia, Ajmar Franco, Mandich Paola

Abstract excerpt

Friedreich ataxia (FRDA), an autosomal recessive neurodegenerative disease, is associated with an unstable expansion of a GAA trinucleotide repeat in the first intron of the frataxin gene on chromosome 9q13. Unequivocal molecular characterization of the FRDA triplet expansion requires the use of different PCR protocols to amplify normal and mutated alleles combined with Southern blotting analysis to accurately...

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Identifiers

PMID: 15507666
DOI: 10.1016/S1525-1578(10)60523-5
PMCID: PMC1867489

Genes

GAA

Provenance

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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