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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Detalles Bibliográficos
Autores principales: Brown, Sean G, Miller, Melissa R, Lishko, Polina V, Lester, Douglas H, Publicover, Stephen J, Barratt, Christopher L R, Martins Da Silva, Sarah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6295793/
https://www.ncbi.nlm.nih.gov/pubmed/30239785
http://dx.doi.org/10.1093/humrep/dey278

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