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Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations

BACKGROUND: Hemophilia B (HB) is an X‐linked recessive inherited bleeding disorder caused by mutations in the F9 gene that lead to plasma factor IX deficiency. To identify the causative mutations in HB, a molecular analysis of HB pedigrees in China was performed. METHODS: Using next‐generation seque...

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Detalles Bibliográficos
Autores principales:	Huang, Limin, Li, Liyan, Lin, Sheng, Chen, Juanjuan, Li, Kun, Fan, Dongmei, Jin, Wangjie, Li, Yihong, Yang, Xu, Xiong, Yufeng, Li, Fenxia, Yang, Xuexi, Li, Ming, Li, Qiang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667291/ https://www.ncbi.nlm.nih.gov/pubmed/32875744 http://dx.doi.org/10.1002/mgg3.1482

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