Marchi, Rita

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