Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation associated with a congenital bilateral absence of vas deferens.

International journal of urology : official journal of the Japanese Urological Association - 1 Mar 2008

Sakamoto Hideo, Yajima Takatoshi, Suzuki Kohta, Ogawa Yoshio

Abstract excerpt

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations associated with cystic fibrosis have been reported to be rare in Japanese patients with congenital bilateral absence of vas deferens (CBAVD). A 28-year-old Japanese male was referred for infertility. Vas deferens and epididymis were not palpable bilaterally. Semen analyses showed azoospermia with volumes below 2.0 ml. Serum...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cystic Fibrosis Transmembrane Conductance Regulator
Share to CFTR gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Vas Deferens

Source

Identifiers

PMID: 18304229
DOI: 10.1111/j.1442-2042.2007.01974.x

Genes

CFTR

Variants

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation associated with a congenital bilateral absence of vas deferens.PMID 18304229Read ↗

Mutations of the cystic fibrosis transmembrane conductance regulator gene in males with congenital bilateral absence of the vas deferens: Reproductive implications and genetic counseling (Review).Semantic proximity Read ↗

CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens.Semantic proximity Read ↗

A patient with 47, XYY mosaic karyotype and congenital absence of bilateral vas deferens: a case report and literature review.Semantic proximity Read ↗

Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counselingSemantic proximity Read ↗

Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies.Semantic proximity Read ↗

Mutation studies in the CFTR gene in Asian Indian subjects with congenital bilateral absence of vas deferens: report of two novel mutations and four novel variants.Semantic proximity Read ↗

Correlation between CFTR gene mutations in Iranian men with congenital absence of the vas deferens and anatomical genital phenotype.Semantic proximity Read ↗

Congenital Bilateral Absence of the Vas DeferensSemantic proximity Read ↗

[Gene mutations in congenital bilateral absence of the vas deferens: An update].Semantic proximity Read ↗

[Detection of the mutation of all the exons of the CFTR gene in Chinese men with congenital bilateral absence of the vas deferens].Semantic proximity Read ↗

Compound heterozygous mutations in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigree.Semantic proximity Read ↗

Genetic investigations of CFTR mutations in congenital absence of vas deferens, uterus, and vagina as a cause of infertility.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.