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Article

Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.

American journal of respiratory and critical care medicine - 1 Oct 2006

Wilschanski Michael, Dupuis Annie, Ellis Lynda, Jarvi Keith, Zielenski Julian, Tullis Elizabeth, Martin Sheelagh, Corey Mary, Tsui Lap-Chee, Durie Peter

Abstract excerpt

AIM: To examine the relationship between cystic fibrosis transmembrane regulator gene mutations (CFTR) and in vivo transepithelial potentials. METHODS: We prospectively evaluated 162 men including 31 healthy subjects, 21 obligate heterozygotes, 60 with congenital bilateral absence of the vas deferens (CBAVD) and 50 with CF by extensive CFTR genotyping, sweat chloride and nasal potential difference testing....

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Identifiers

PMID: 16840743
DOI: 10.1164/rccm.200509-1377OC
PMCID: PMC2648063

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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