A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream
Published inBlood coagulation & fibrinolysis, vol. 20, no. 5, p. 385-387
Publication date2009
Abstract
Keywords
- 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
Affiliation Not a UNIGE publication
Citation (ISO format)
ROBERT-EBADI, Helia et al. A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream. In: Blood coagulation & fibrinolysis, 2009, vol. 20, n° 5, p. 385–387. doi: 10.1097/MBC.0b013e328329f2a0
Main files (1)
Article
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Identifiers
- PID : unige:8999
- DOI : 10.1097/MBC.0b013e328329f2a0
- PMID : 19417632
ISSN of the journal0957-5235