Original paper

Homozygous in-frame deletion inCATSPEREin a man producing spermatozoa with loss of CatSper function and compromised fertilizing capacity

Volume: 33, Issue: 10, Pages: 1812 - 1816
Published: Sep 17, 2018
Abstract
Does a man (patient 1) with a previously described deficiency in principle cation channel of sperm (CatSper) function have a mutation in the CatSper-epsilon (CATSPERE) and/or CatSper-zeta (CATSPERZ) gene? Patient 1 has a homozygous in-frame 6-bp deletion in exon 18 (c.2393_2398delCTATGG, rs761237686) of CATSPERE. CatSper is the principal calcium channel of mammalian spermatozoa. Spermatozoa from patient 1 had a specific loss of CatSper function...
Paper Details
Title
Homozygous in-frame deletion inCATSPEREin a man producing spermatozoa with loss of CatSper function and compromised fertilizing capacity
Published Date
Sep 17, 2018
Volume
33
Issue
10
Pages
1812 - 1816
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