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Article

Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.

Clinical chemistry - 1 Jun 1995

Jézéquel P, Dorval I, Fergelot P, Chauvel B, Le Treut A, Le Gall J Y, Le Lannou D, Blayau M

Abstract excerpt

Congenital bilateral absence of the vas deferens (CBAVD) is found in most males with cystic fibrosis (CF), but this malformation can be observed without any pulmonary or digestive features. We have analyzed 13 exons of the CF gene in a cohort of 25 CBAVD patients. Among the 50 chromosomes studied, 24 mutations were identified: delta F508 (14 cases), R117H (7 cases), R1070W (2 cases), 621 + 1 G --> T (1 case), and...

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Identifiers

PMID: 7539342

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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