A novel mutation in the FGB: c.1105C>T turns the codon for amino acid Bβ Q339 into a stop codon causing hypofibrinogenemia. [electronic resource]
- Blood cells, molecules & diseases Mar 2013
- 177-81 p. digital
Publication Type: Case Reports; Journal Article
1096-0961
10.1016/j.bcmd.2012.11.010 doi
Adolescent Afibrinogenemia--blood Blood Coagulation Codon, Nonsense Fibrin--metabolism Fibrinogen--genetics Humans Male Mutation Protein Multimerization