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Article

Molecular and functional characterization of CBAVD-causing mutations located in CFTR nucleotide-binding domains.

Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology - 1 Jan 2008

Grangeia Ana, Barro-Soria René, Carvalho Filipa, Damas Ana M, Maurício Ana Colette, Kunzelmann Karl, Barros Alberto, Sousa Mário

Abstract excerpt

BACKGROUND: About 98% of male affected with cystic fibrosis (CF [MIM 219700]) are infertile due to bilateral absence of vas deferens (CBAVD [MIM 277180]), which makes up 1-2 % of all cases with male infertility. A previous screening of the entire coding region of the cystic fibrosis transmembrane conductance regulator gene (CFTR [MIM 602421]) in CBAVD patients identified three novel mutations: P439S is located in...

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Identifiers

PMID: 18769034
DOI: 10.1159/000149785

Genes

CFTR

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