Article
Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action.
Human mutation - 1 Oct 2016
Thomas Anne, Biswas Arijit, Dodt Johannes, Philippou Helen, Hethershaw Emma, Ensikat Hans Juergen, Ivaskevicius Vytautas, Oldenburg Johannes
Abstract excerpt
Inherited defects of coagulation Factor XIII (FXIII) can be categorized into severe and mild forms based on their genotype and phenotype. Heterozygous mutations occurring in F13A1 and F13B genes causing mild FXIII deficiency have been reported only in the last few years primarily because the mild FXIII deficiency patients are often asymptomatic unless exposed to some kind of a physical trauma. However, unlike...
Topics
- Binding Sites
- Cells, Cultured
- Computer Simulation
- Factor XIII Deficiency
- Factor XIIIa
- Fibrinogen
- Humans
- Models, Molecular
- Molecular Docking Simulation
- Mutation, Missense
