Article
Different Clinical Phenotypes Caused by Three F8 Missense Mutations in Three Chinese Families with Moderate Hemophilia A.
DNA and cell biology - 1 Sept 2020
Huang Limin, Li Liyan, Li Qiang, Chen Juanjuan, Lin Sheng, Li Kun, Fan Dongmei, Jin Wangjie, Li Yihong, Yang Xu, Xiong Yufeng, Li Ming, Yang Xuexi
Abstract excerpt
In families with a monogenic disorder, the causal mutation usually cosegregates with the disease phenotype. In rare cases, however, individuals carrying the same mutation within a family may show various phenotypes. This study aimed to analyze the discrepancy between genotype and phenotype in three families with moderate hemophilia A (HA) caused by missense mutation in the F8 gene. Among the 67 noninversion...
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