Article
An intronic mutation c.6430-3C>G in the F8 gene causes splicing efficiency and premature termination in hemophilia A.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jun 2018
Xia Zunjing, Lin Jie, Lu Lingping, Kim Chol, Yu Ping, Qi Ming
Abstract excerpt
: Hemophilia A is a bleeding disorder caused by coagulation factor VIII protein deficiency or dysfunction, which is classified into severe, moderate, and mild according to factor clotting activity. An overwhelming majority of missense and nonsense mutations occur in exons of F8 gene, whereas mutations in introns can also be pathogenic. This study aimed to investigate the effect of an intronic mutation,...
Topics
- Adult
- Child
- Codon, Nonsense
- Factor VIII
- Female
- Hemophilia A
- Humans
- Introns
- Male
- Mutation
- RNA Splicing
- von Willebrand Factor