Article
[Phylogenetic analysis and pathogenesis study of a new deletion mutation causing inherited FⅩ deficiency].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 14 Oct 2024
Fu D Y, Lu X M, Yu Y L, Zhao L D, Wang L, Yang J, Zheng J W, Wang D Y, Yang L H, Wang G
Abstract excerpt
Objective: To analyze the F10 gene mutations in a Chinese pedigree affected with the deficiency of the hereditary coagulation factor X (FX), resulting from a new deletion mutation, and to study the associated molecular pathogenesis. Methods: Next generation sequencing (NGS) was performed to screen the genetic mutations in the proband which were then verified by Sanger sequencing. The FX activity (FX∶C) of...
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