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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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| Vydáno v: | Oncotarget |
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| Hlavní autoři: | , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Impact Journals LLC
2017
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| 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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