SPINK 2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in...
SPINK 2 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
Journal title
Language
English
Formats
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
SPINK
2,
encoding a serine protease inhibitor believed to target acrosin,...
Alternative Titles
Full title
SPINK 2 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_crossref_primary_10_15252_emmm_201607461
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_crossref_primary_10_15252_emmm_201607461
Other Identifiers
ISSN
1757-4676
E-ISSN
1757-4684
DOI
10.15252/emmm.201607461
