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Article

CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Mar 2003

Anzai Chieko, Morokawa Nasa, Okada Hiroshi, Kamidono Sadao, Eto Yoshikatsu, Yoshimura Kunihiko

Abstract excerpt

Congenital bilateral absence of the vas deferens (CBAVD) is a monosymptomatic disease confined to the male reproductive system with similarity to the phenotype of cystic fibrosis (CF), and mutations in the CFTR gene are highly prevalent in Caucasian CBAVD patients. While CF is very rare in Japan, CBAVD is not. Our previous study demonstrated high prevalence of the 5T allele in the CFTR gene in Japanese CBAVD...

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Source

Identifiers

PMID: 15463840
DOI: 10.1016/S1569-1993(02)00144-3

Genes

CFTR

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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