Article
Molecular mechanisms of mutations in factor XIII A-subunit deficiency: in vitro expression in COS-cells demonstrates intracellular degradation of the mutant proteins.
Thrombosis and haemostasis - 1 Jun 1997
Mikkola H, Muszbek L, Haramura G, Hämäläinen E, Jalanko A, Palotie A
Abstract excerpt
Factor XIII deficiency is an autosomal recessive bleeding disorder that is largely caused by various mutations in FXIII A-subunit gene. Characteristically, the patients lack both A-subunit activity and antigen in the circulation. Here we have analysed the consequences of four missense mutations (...
Topics
- Animals
- COS Cells
- DNA, Complementary
- Factor XIII
- Factor XIII Deficiency
- Humans
- Mutation
- Transfection