Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens | Zendy

D Dayangaç | Zendy; Hayat ErdemYurter | Zendy; Engin Yılmaz | Zendy; Ahmet Şahin | Zendy; Christof Sohn | Zendy; Meral Özgüç | Zendy; Thilo Dörk | Zendy

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Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens

Author(s) -

D Dayangaç,

Hayat ErdemYurter,

Engin Yılmaz,

Ahmet Şahin,

Christof Sohn,

Meral Özgüç,

Thilo Dörk

Publication year - 2004

Publication title -

human reproduction

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.446

H-Index - 226

eISSN - 1460-2350

pISSN - 0268-1161

DOI - 10.1093/humrep/deh223

Subject(s) - cystic fibrosis transmembrane conductance regulator , cystic fibrosis , missense mutation , turkish population , genetics , biology , allele , vas deferens , exon , population , mutation , genotype , gene , medicine , endocrinology , environmental health

Mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) can cause congenital bilateral absence of the vas deferens (CBAVD) as a primarily genital form of cystic fibrosis. The spectrum and frequency of CFTR mutations in Turkish males with CBAVD is largely unknown.

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