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Article

Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics.

The clinical respiratory journal - 1 Mar 2018

Soltysova Andrea, Tothova Tarova Eva, Ficek Andrej, Baldovic Marian, Polakova Helena, Kayserova Hana, Kadasi Ludevit

Abstract excerpt

INTRODUCTION: Cystic fibrosis (CF) has one of the longest histories in hereditary disease molecular diagnostics. However, identification of causative mutations in the CFTR gene is complicated by over 2000 currently identified mutations; with more still being discovered. Knowledge of mutation spectrum may improve effective routine diagnostics and is obligatory in mutation-specific treatment. OBJECTIVES: This study...

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Identifiers

PMID: 28544683
DOI: 10.1111/crj.12651

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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