Robert-Ebadi, H

A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream. [electronic resource] - Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis Jul 2009 - 385-7 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review

1473-5733

10.1097/MBC.0b013e328329f2a0 doi


Afibrinogenemia--genetics
Codon, Nonsense--genetics
Consanguinity
DNA Mutational Analysis
Exons--genetics
Female
Frameshift Mutation
Hemorrhage--etiology
Homozygote
Humans
Infant, Newborn
Italy
Morocco--ethnology
Sequence Deletion