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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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Podrobná bibliografie
Vydáno v:Oncotarget
Hlavní autoři: Li, Lin, Sha, Yanwei, Wang, Xi, Li, Ping, Wang, Jing, Kee, Kehkooi, Wang, Binbin
Médium: Artigo
Jazyk:Inglês
Vydáno: Impact Journals LLC 2017
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5386733/
https://ncbi.nlm.nih.gov/pubmed/28199965
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18632/oncotarget.15251
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