A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream
Contributeurs/tricesRobert-Ebadi, Helia; De Moerloose, Philippe; El Khorassani, M.; El Khattab, M.; Neerman Arbez, Marguerite
Publié dansBlood coagulation & fibrinolysis, vol. 20, no. 5, p. 385-387
Date de publication2009
Résumé
Mots-clés
- 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
Structure d'affiliation Pas une publication de l'UNIGE
Citation (format ISO)
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
Fichiers principaux (1)
Article
Identifiants
- PID : unige:8999
- DOI : 10.1097/MBC.0b013e328329f2a0
- PMID : 19417632
ISSN du journal0957-5235