Characterization of a Missense Mutation in the Catalytic Domain and a Splicing Mutation of Coagulation Factor X Compound Heterozygous in a Chinese Pedigree

Characterization of a Missense Mutation in the Catalytic Domain and a Splicing Mutation of Coagulation Factor X Compound Heterozygous in a Chinese Pedigree

Background: Congenital coagulation factor X (FX) deficiency is a rare bleeding disorder with an incidence of one in one million caused by mutations in the FX-coding gene(F10), leading to abnormal coagulation activity and a tendency for severe hemorrhage. Therefore, identifying mutations in FX is imp...

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Bibliographic Details
Main Authors: Yuanzheng Feng, Jiewen Ma, Liang V Tang, Wenyi Lin, Yanyi Tao, Zhipeng Cheng, Yu Hu
Format: Article
Language:English
Published: MDPI AG 2021-09-01
Series:Genes
Subjects:
factor X
deficiency
compound heterozygous mutations
coagulation
bleeding
Online Access:https://www.mdpi.com/2073-4425/12/10/1521

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https://www.mdpi.com/2073-4425/12/10/1521

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