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Article

Congenital bilateral absence of vas deferens with a new missense mutation (P499A) in the CFTR gene.

Clinical genetics - 1 Mar 1998

Arduino C, Ferrone M, Brusco A, Garnerone S, Fontana D, Rolle L, Carbonara A O

Abstract excerpt

We describe a congenital bilateral absence of the vas deferens (CBAVD) patient with a compound heterozygosity in the cystic fibrosis transmembrane regulator (CFTR) gene for a stop mutation W1282X and a new missense mutation P499A. The P499A is interpreted as a mild mutation whose phenotypic effects, in this case limited to the development of wolffian duct derivatives, are revealed only in combination with a...

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Source

Identifiers

PMID: 9630075
DOI: 10.1111/j.1399-0004.1998.tb02677.x

Genes

CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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