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Article

[Analysis of mutations in the CFTR gene in patients diagnosed with cystic fibrosis in Poland].

Medycyna wieku rozwojowego - 1 Jan 2000

Aznarez I, Bal J, Casals T, Estivill X, Moral N, Sands D, Nunes V, Sobczyńska-Tomaszewska A, Tsui L C, Zielenski J

Abstract excerpt

Polish CF patients were screened extensively for mutations in the CFTR gene. Screening data demonstrated a high heterogeneity of CFTR mutations in the Polish population. Total 30 different mutations were characterised in 24 exons or introns of the gene. Among them, six mutations have been reported for the first time and submitted to the CF Genetic Analysis Consortium. In addition, 15 different polymorphisms were...

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Source

Identifiers

PMID: 11013869

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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