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Article

The occurrence of various non-delta F508 CFTR gene mutations among Hungarian cystic fibrosis patients.

Human genetics - 1 May 1992

Nemeti M, Johnson J P, Papp Z, Louie E

Abstract excerpt

Cystic fibrosis (CF) is an autosomal recessive disease caused by different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The frequency of the major mutation (delta F508) in the Hungarian population is 64%. To identify other common mutations in CF families from Hungary, 30 non-delta F508 CF chromosomes were analyzed for selected mutations in exon 11 (G551D, R553X, G542X), intron...

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Identifiers

PMID: 1375186
DOI: 10.1007/BF00217133

Genes

CFTR

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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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