Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia
Contributeurs/tricesTirefort, Yordanka; Alson, Olivat Rakoto; De Moerloose, Philippe; Neerman Arbez, Marguerite
Publié dansBlood coagulation & fibrinolysis, vol. 23, no. 6, p. 556-558
Date de publication2012
Résumé
Mots-clés
- Afibrinogenemia/complications/congenital/diagnosis/genetics
- Arthralgia/complications/diagnosis/genetics
- Child
- Codon, Initiator
- DNA Mutational Analysis
- Exons
- Fibrinogen/genetics
- Heterozygote
- Homozygote
- Humans
- Male
- Mutation, Missense
- Pedigree
Groupe de recherche
Financement
- Swiss National Science Foundation - 31-119845
Citation (format ISO)
TIREFORT, Yordanka et al. Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia. In: Blood coagulation & fibrinolysis, 2012, vol. 23, n° 6, p. 556–558. doi: 10.1097/MBC.0b013e328355a76e
Fichiers principaux (2)
Article (Published version)
Article (Accepted version)
Identifiants
- PID : unige:32312
- DOI : 10.1097/MBC.0b013e328355a76e
- PMID : 22732251
ISSN du journal0957-5235