Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency
Contributeurs/tricesTirefort, Yordanka; Uhr, Mario R; Neerman Arbez, Marguerite ; De Moerloose, Philippe
Publié dansBlood coagulation & fibrinolysis, vol. 23, no. 3, p. 251-252
Date de publication2012
Résumé
Mots-clés
- Adult
- Amino Acid Substitution
- Catalytic Domain/genetics
- DNA Mutational Analysis
- Exons
- Factor XI/genetics
- Factor XI Deficiency/genetics
- Female
- Genetic Testing
- Heterozygote
- Humans
- Male
- Mutation, Missense
- Pedigree
- Switzerland
Structure d'affiliation
Groupe de recherche
Citation (format ISO)
TIREFORT, Yordanka et al. Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency. In: Blood coagulation & fibrinolysis, 2012, vol. 23, n° 3, p. 251–252. doi: 10.1097/MBC.0b013e32834ea02a
Fichiers principaux (1)
Article (Published version)
Identifiants
- PID : unige:32314
- DOI : 10.1097/MBC.0b013e32834ea02a
- PMID : 22322133
ISSN du journal0957-5235