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Article

Screening practices for mutations in the CFTR gene ABCC7.

Human mutation - 1 Jan 2000

Girodon-Boulandet E, Cazeneuve C, Goossens M

Abstract excerpt

Cystic fibrosis transmembrane conductance regulator (CFTR) gene studies are now one of the most frequent activities in clinical molecular genetics laboratories. The number of requests is growing, owing to the increasingly wide range of recognized CFTR gene diseases (cystic fibrosis, congenital bilateral absence of the vas deferens, disseminated bronchiectasis, allergic bronchopulmonary aspergillosis and chronic...

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Source

Identifiers

PMID: 10649490
DOI: 10.1002/(SICI)1098-1004(200002)15:2<135::AID-HUMU2>3.0.CO;2-H

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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