Whole-exome sequencing identified a homozygous BRDT mutation in a patient with acephalic spermatozoa

Acephalic spermatozoa is a very rare disorder of male infertility. Here, in a patient from from a consanguineous family, we have identified, by whole-exome sequencing, a homozygous mutation (c.G2783A, p.G928D) in the BRDT gene. The gene product, BRDT, is a testis-specific protein that is considered...

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Detalles Bibliográficos
Autores principales: Li, Lin, Sha, Yanwei, Wang, Xi, Li, Ping, Wang, Jing, Kee, Kehkooi, Wang, Binbin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5386733/
https://www.ncbi.nlm.nih.gov/pubmed/28199965
http://dx.doi.org/10.18632/oncotarget.15251

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5386733/
https://www.ncbi.nlm.nih.gov/pubmed/28199965
http://dx.doi.org/10.18632/oncotarget.15251

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