Article
Structural and functional characterization of novel F7 mutations identified in Chinese factor VII-deficient patients.
British journal of haematology - 1 Aug 2023
Lou Can, Jiang Jiali, Chen Weizhi, Zhang Zhili, Xu Guanqun, Liu Yu, Dai Jing, Ding Qiulan, Wang Xuefeng, Wei Hongying, Wu Youwei, Xu Qin, Wu Wenman
Abstract excerpt
Hereditary factor VII (FVII) deficiency is a rare recessive bleeding disorder with an estimated prevalence of 1/500 000. We had investigated 50 unrelated Chinese patients with FVII deficiency and identified, in total, 25 mutations, including 18 missense mutations and 5 splicing mutations, on the F7 gene. The nucleotide transition c.1224T>G (p.His408Gln) in exon 9 constitutes a hotspot of mutation, with 19...
Topics
- Humans
- East Asian People
- Factor VII
- Factor VII Deficiency
- Factor VIIa
- Genotype
- Mutation