Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens

In 80% of infertile men with obstructive azoospermia caused by a congenital bilateral absence of the vas deferens (CBAVD), mutations are identified in the cystic fibrosis transmembrane conductance regulator gene (CFTR). For the remaining 20%, the origin of the CBAVD is unknown. A large cohort of azo...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Patat, Olivier, Pagin, Adrien, Siegfried, Aurore, Mitchell, Valérie, Chassaing, Nicolas, Faguer, Stanislas, Monteil, Laetitia, Gaston, Véronique, Bujan, Louis, Courtade-Saïdi, Monique, Marcelli, François, Lalau, Guy, Rigot, Jean-Marc, Mieusset, Roger, Bieth, Eric
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4974083/
https://ncbi.nlm.nih.gov/pubmed/27476656
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.06.012
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