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Article

Distribution of 9 common mutations in the CFTR gene in Slovak cystic fibrosis patients.

Gene geography : a computerized bulletin on human gene frequencies - 1 Apr 1997

Kádasi L, Poláková H, Zatková A, Kayserová H

Abstract excerpt

The distribution of 9 known mutations in the CFTR gene were studied in 234 CF chromosomes originating from 117 unrelated cystic fibrosis (CF) patients from Slovakia, a population which is geographically situated at the borders between Western and Eastern Europe, and Northern and Southern Europe. The following 7 mutations were identified in this sample: delta F508 (59.4%), G542X (5.56%), R553X (3.42%), N1303K...

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Source

Identifiers

PMID: 9615214

Genes

CFTR

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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