Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.

doi:10.1016/j.jcf.2012.12.002

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Sept 2013

Křenková Petra, Piskáčková Tereza, Holubová Andrea, Balaščaková Miroslava, Krulišová Veronika, Čamajová Jana, Turnovec Marek, Libik Malgorzata, Norambuena Patricia, Štambergová Alexandra, Dvořáková Lenka, Skalická Veronika, Bartošová Jana, Kučerová Tereza, Fila Libor, Zemková Dana, Vávrová Věra, Koudová Monika, Macek Milan, Krebsová Alice, Macek Milan

Abstract excerpt

BACKGROUND: This two decade long study presents a comprehensive overview of the CFTR mutation distribution in a representative cohort of 600 Czech CF patients derived from all regions of the Czech Republic. METHODS: We examined the most common CF-causing mutations using the Elucigene CF-EU2v1™ assay, followed by MLPA, mutation scanning and/or sequencing of the entire CFTR coding region and splice site junctions....

Topics

Alleles
Child
Child, Preschool
Clinical Laboratory Techniques
Cystic Fibrosis Transmembrane Conductance Regulator
Czech Republic
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Mutation

Source

Open in PubMed

Identifiers

PMID: 23276700
DOI: 10.1016/j.jcf.2012.12.002

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.