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Article

[Frequency of mutations and genotypes of the CFTR gene in cystic fibrosis adults in Poland].

Pneumonologia i alergologia polska - 1 Jan 1999

Witt M, Pogorzelski A, Bal J, Rutkiewicz E, Majka L, Sobczyńska A

Abstract excerpt

Based on the Polish Registry of Cystic Fibrosis the analysis of alive CF adults (18 y.a. and more) was performed. Out of 156 Polish CF adults, in 106 (68.0%) identification of the CFTR gene mutations was performed. Relative frequencies of 24 mutations of CFTR gene mutations is 72.2%. Frequencies of the most common mutations are: delta F508 49.06%, 3849 + 10kbCT 8.96%, G542X 1.89%; in Polish CF adults mutations...

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Source

Identifiers

PMID: 10497446

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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