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Article

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

The Indian journal of medical research - 1 May 2016

Gajbhiye Rahul, Kadam Kaushiki, Khole Aalok, Gaikwad Avinash, Kadam Seema, Shah Rupin, Kumaraswamy Rangaswamy, Khole Vrinda

Abstract excerpt

BACKGROUND & OBJECTIVES: The role of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in congenital bilateral absence of vas deferens and unilateral renal agenesis (CBAVD-URA) has been controversial. Here, we report the cases of five Indian males with CBAVD-URA. The objective was to evaluate the presence or absence of CFTR gene mutations and variants in CBAVD-URA. The female partners of...

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Identifiers

PMID: 27488005
DOI: 10.4103/0971-5916.187110
PMCID: PMC4989835

Genes

CFTR

Variants

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