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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538632/
https://www.ncbi.nlm.nih.gov/pubmed/28554943
http://dx.doi.org/10.15252/emmm.201607461

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538632/
https://www.ncbi.nlm.nih.gov/pubmed/28554943
http://dx.doi.org/10.15252/emmm.201607461

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