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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Published in: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
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2017
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Research Articles
Online Access: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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