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Article

A novel missense mutation P1290S at exon-20 of the CFTR gene in a Portuguese patient with congenital bilateral absence of the vas deferens.

Fertility and sterility - 1 Feb 2005

Grangeia Ana, Carvalho Filipa, Fernandes Susana, Silva Joaquina, Sousa Mário, Barros Alberto

Abstract excerpt

OBJECTIVE: To report a novel cystic fibrosis transmembrane conductance regulator (CFTR) gene missense mutation in a compound heterozygote with congenital bilateral absence of the vas deferens (CBAVD). DESIGN: Descriptive, controlled study. SETTING: Tertiary academic hospital genetics laboratory and private in vitro fertilization (IVF) clinic. PATIENT(S): One 46-year-old man with CBAVD and no clinical cystic...

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Source

Identifiers

PMID: 15705389
DOI: 10.1016/j.fertnstert.2004.07.967

Genes

CFTR

Provenance

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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