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Article

A large deletion in the CFTR gene in CBAVD.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2006

Hantash Feras M, Milunsky Aubrey, Wang Zhenyuan, Anderson Ben, Sun Weimin, Anguiano Arturo, Strom Charles M

Abstract excerpt

PURPOSE: Most cystic fibrosis mutation screening methods do not detect large exon deletions or duplications in the cystic fibrosis transmembrane regulator gene. We looked for such mutations in congenital bilateral absence of the vas deferens patients in whom routine screening assays had identified only one or no cystic fibrosis transmembrane regulator gene mutations. METHODS: DNA samples from 48 men with...

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Source

Identifiers

PMID: 16481891
DOI: 10.1097/01.gim.0000200945.54234.d7

Genes

CFTR

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.

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