Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling | Zendy

Ilham Ratbi | Zendy; Marie Legendre | Zendy; Florence Niel | Zendy; Josiane Martin | Zendy; Jean-Claude Soufir | Zendy; Vincent Izard | Zendy; Bruno Costes | Zendy; Cathérine Costa | Zendy; Michel Goossens | Zendy; Emmanuelle Girodon | Zendy

Open Access

Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling

Author(s) -

Ilham Ratbi,

Marie Legendre,

Florence Niel,

Josiane Martin,

Jean-Claude Soufir,

Vincent Izard,

Bruno Costes,

Cathérine Costa,

Michel Goossens,

Emmanuelle Girodon

Publication year - 2007

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/dem024

Subject(s) - cystic fibrosis transmembrane conductance regulator , cystic fibrosis , allele , mutation , vas deferens , exon , compound heterozygosity , biology , genetics , gene duplication , gene , genetic counseling , medicine , endocrinology

Mutations in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene have been widely detected in infertile men with congenital bilateral absence of the vas deferens (CBAVD). Despite extensive analysis of the CFTR gene using varied screening methods, a number of cases remain unsolved and could be attributable to the presence of large gene rearrangements, as recently shown for CF patients.

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