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

STUDY QUESTION: 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? SUMMARY ANSWER: Patient 1 has a homozygous in-frame 6-bp deletion in exon 18 (c...

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Bibliografische gegevens
Gepubliceerd in:Hum Reprod
Hoofdauteurs: Brown, Sean G, Miller, Melissa R, Lishko, Polina V, Lester, Douglas H, Publicover, Stephen J, Barratt, Christopher L R, Martins Da Silva, Sarah
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2018
Onderwerpen:
Short Communication
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6295793/
https://ncbi.nlm.nih.gov/pubmed/30239785
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/humrep/dey278
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