SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes

Azoospermia, characterized by the absence of spermatozoa in the ejaculate, is a common cause of male infertility with a poorly characterized etiology. Exome sequencing analysis of two azoospermic brothers allowed the identification of a homozygous splice mutation in SPINK2, encoding a serine proteas...

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Detalhes bibliográficos
Publicado no:EMBO Mol Med
Main Authors: Kherraf, Zine‐Eddine, Christou‐Kent, Marie, Karaouzene, Thomas, Amiri‐Yekta, Amir, Martinez, Guillaume, Vargas, Alexandra S, Lambert, Emeline, Borel, Christelle, Dorphin, Béatrice, Aknin‐Seifer, Isabelle, Mitchell, Michael J, Metzler‐Guillemain, Catherine, Escoffier, Jessica, Nef, Serge, Grepillat, Mariane, Thierry‐Mieg, Nicolas, Satre, Véronique, Bailly, Marc, Boitrelle, Florence, Pernet‐Gallay, Karin, Hennebicq, Sylviane, Fauré, Julien, Bottari, Serge P, Coutton, Charles, Ray, Pierre F, Arnoult, Christophe
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5538632/
https://ncbi.nlm.nih.gov/pubmed/28554943
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201607461
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