Article
Analysis of an Inherited Dysfibrinogenemia Pedigree Associated with a Heterozygous Mutation in the FGA Gene.
Hamostaseologie - 1 Dec 2020
Li Shaoxi, Wang Mingshan, Li Xiaolong, Xu Qiyu, Liu Siqi, Luo Shasha, Chen Yi
Abstract excerpt
OBJECTIVE: This article aims to analyze the phenotype and genotype of an inherited dysfibrinogenemia pedigree associated with a heterozygous mutation in the FGA gene, and to investigate the pathogenesis of this disease. CLINICAL PRESENTATION: The proband of interest is a 29-year-old woman. She was in her 37 weeks of gestation. Routine coagulation tests showed low fibrinogen activity (0.91 g/L; normal range:...
Topics
- Afibrinogenemia
- Female
- Fibrinogen
- Heterozygote
- Humans
- Male
- Mutation