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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Detalles Bibliográficos
Autores principales: Guo, Ting, Zhao, Shidou, Zhao, Shigang, Chen, Min, Li, Guangyu, Jiao, Xue, Wang, Zhao, Zhao, Yueran, Qin, Yingying, Gao, Fei, Chen, Zi-Jiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393145/
https://www.ncbi.nlm.nih.gov/pubmed/28175301
http://dx.doi.org/10.1093/hmg/ddx044

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