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Article

Distribution of CFTR mutations in Eastern Hungarians: relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 May 2011

Ivady Gergely, Madar Laszlo, Nagy Bela, Gonczi Ferenc, Ajzner Eva, Dzsudzsak Erika, Dvořáková Lenka, Gombos Eva, Kappelmayer Janos, Macek Milan, Balogh Istvan

Abstract excerpt

BACKGROUND: The aim of this study was characterization of an updated distribution of CFTR mutations in a representative cohort of 40 CF patients with the classical form of the disease drawn from Eastern Hungary. Due to the homogeneity of the Hungarian population our data are generally applicable to other regions of the country, including the sizeable diaspora. METHODS: We utilized the recommended "cascade" CFTR...

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PMID: 21296036
DOI: 10.1016/j.jcf.2010.12.009

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.

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