SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in h...
SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes
About this item
Full title
Author / Creator
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 and Arnoult, Christophe
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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 protease inhibitor believed to target acrosin, the...
Alternative Titles
Full title
SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_acfdace776ce4e4b925803c814b43c54
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_acfdace776ce4e4b925803c814b43c54
Other Identifiers
ISSN
1757-4676
E-ISSN
1757-4684
DOI
10.15252/emmm.201607461
