Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency
Published inBlood coagulation & fibrinolysis, vol. 23, no. 3, p. 251-252
Publication date2012
Abstract
Keywords
- 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
Citation (ISO format)
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
Main files (1)
Article (Published version)
Identifiers
- PID : unige:32314
- DOI : 10.1097/MBC.0b013e32834ea02a
- PMID : 22322133
ISSN of the journal0957-5235