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Article

Screening of CFTR mutations in an isolated population: identification of carriers and patients.

European journal of human genetics : EJHG - 1 Jan 2000

Chiba-Falek O, Nissim-Rafinia M, Argaman Z, Genem A, Moran I, Kerem E, Kerem B

Abstract excerpt

One important application of the identification of disease-causing mutations is carrier screening in the general population. Such a project requires a simple accurate test by which a large proportion of the mutations can be identified. This study describes screening for CFTR mutations in an isolated Israeli Arab village. Two mutations, G85E and delta F508, accounted for all the CF alleles of these patients. The...

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Share to Cystic Fibrosis Transmembrane Conductance Regulator

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9781064
DOI: 10.1038/sj.ejhg.5200174

Genes

CFTR

Variants

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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