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.

Abstract excerpt

BACKGROUND: Congenital bilateral absence of vas deferens (CBAVD) is a form of male infertility in which mutations occur in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The molecular basis of CBAVD is not completely understood, especially in developing countries. METHODS: We characterized the mutations/variants in the CFTR gene by single strand conformation polymorphism followed by...

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