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Article

[Molecular genetic diagnosis of Friedreich's ataxia. Ten years experience based on blood sample analysis].

Orvosi hetilap - 3 Jun 2012

Kisfali Péter, Melegh Béla

Abstract excerpt

UNLABELLED: Mutations of the frataxin gene give the most common underlying genetic background of recessively inheritable type ataxias in Europe. In our department, we have been establishing the molecular genetic diagnosis of Friedreich's ataxia since 2001. We analyzed a total of 221 blood samples from the whole country. METHODS: After fragment analysis we performed direct exon sequencing. RESULTS: This study...

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Identifiers

PMID: 22641259
DOI: 10.1556/OH.2012.29372

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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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