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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:EMBO Mol Med
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: John Wiley and Sons Inc. 2017
विषय:
Research Articles
ऑनलाइन पहुंच: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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