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Mutations in MSH5 in primary ovarian insufficiency
Primary ovarian insufficiency (POI) is a genetically heterogeneous disorder that occurs in familial or sporadic fashion. Through whole exome sequencing in a Chinese pedigree with POI, we identified a novel homozygous missense mutation (ENST00000375755: c.1459G > T, p.D487Y) in the MSH5 gene in tw...
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| Publicado no: | Hum Mol Genet |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5393145/ https://ncbi.nlm.nih.gov/pubmed/28175301 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx044 |
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