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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Publicat a:Hum Mol Genet
Autors principals: Guo, Ting, Zhao, Shidou, Zhao, Shigang, Chen, Min, Li, Guangyu, Jiao, Xue, Wang, Zhao, Zhao, Yueran, Qin, Yingying, Gao, Fei, Chen, Zi-Jiang
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2017
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Articles
Accés en línia: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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