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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Veröffentlicht in:Mol Genet Genomic Med
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2020
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Original Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7667291/
https://ncbi.nlm.nih.gov/pubmed/32875744
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1482
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