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Article

Novel CFTR gene mutation in a patient with CBAVD.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 30 Nov 2007

Goh Denise L M, Zhou Youyou, Chong Samuel S, Ngiam Nicola S P, Goh Daniel Y T

Abstract excerpt

We report a novel mutation detected in a 33 year old Chinese man with congenital bilateral absence of the vas deferens (CBAVD), a past history of pulmonary meliodosis infection and a past history of bronchiolitis obliterans organising pneumonia. A novel splice site mutation in intron 6b (1001+5 G-->A) in the homozygous state was identified, and was predicted to lead to inefficient splicing. He was also homozygous...

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Source

Identifiers

PMID: 17398169
DOI: 10.1016/j.jcf.2007.02.004

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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