Article
Phenotypic and genotypic characterization of two factor VII deficiency patients from southeastern China.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Dec 2022
Wang Anzi, Su Dongyun, Chen Yanrong, Fu Yuhan, Tan Xiaoyan, Luo Jingyuan, Wang Jie, Li Yue, Chen Shu
Abstract excerpt
The congenital factor VII deficiency (FVIID) is a rare autosomal recessive haemorrhagic disease caused by mutations in the F7 gene. The aim of this study was to identify the mutations causing FVII deficiency and explain the genotype-phenotype association in two unrelated Chinese patients. Mutation detection was conducted by sequencing the whole F7 gene coding exons, exon-intron boundaries and the untranslated...
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