- SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes.
SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes.
EMBO molecular medicine (2017-05-31)
Zine-Eddine Kherraf, Marie Christou-Kent, Thomas Karaouzene, Amir Amiri-Yekta, Guillaume Martinez, Alexandra S Vargas, Emeline Lambert, Christelle Borel, Béatrice Dorphin, Isabelle Aknin-Seifer, Michael J Mitchell, Catherine Metzler-Guillemain, Jessica Escoffier, Serge Nef, Mariane Grepillat, Nicolas Thierry-Mieg, Véronique Satre, Marc Bailly, Florence Boitrelle, Karin Pernet-Gallay, Sylviane Hennebicq, Julien Fauré, Serge P Bottari, Charles Coutton, Pierre F Ray, Christophe Arnoult
PMID28554943
RÉSUMÉ
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
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Sigma-Aldrich
Anti-SPINK2 antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution