Article
A novel missense mutation (FGG c.1168G > T) in the gamma chain of fibrinogen causing congenital hypodysfibrinogenemia with bleeding phenotype.
Hereditas - 18 Jan 2024
Xu Nuo, Zheng Liping, Dai Zhehao, Zhu Jun, Xie Peng, Yang Shun, Chen Fei
Abstract excerpt
BACKGROUND: Fibrinogen plays pivotal roles in multiple biological processes. Genetic mutation of the fibrinogen coding genes can result in congenital fibrinogen disorders (CFDs). We identified a novel heterozygous missense mutation, FGG c.1168G > T (NCBI NM_000509.6), and conducted expression studies and functional analyses to explore the influence on fibrinogen synthesis, secretion, and polymerization. METHODS:...
Topics
- Animals
- Cricetinae
- Humans
- Afibrinogenemia
- CHO Cells
- Cricetulus
- Fibrinogen
- Mutation
- Mutation, Missense
- Phenotype