Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A'
Published inThrombosis and haemostasis, vol. 104, no. 5, p. 990-997
Publication date2010
Abstract
Keywords
- Adolescent
- Adult
- Afibrinogenemia/blood/*genetics
- Animals
- Blood Coagulation/*genetics
- Blood Coagulation Tests
- Blotting, Western
- COS Cells
- Cercopithecus aethiops
- DNA Mutational Analysis
- Female
- Fibrinogen/*genetics/metabolism
- Fibrinogens, Abnormal/*genetics/metabolism
- Fibrinopeptide A/*genetics/metabolism
- Genetic Predisposition to Disease
- Heterozygote
- Humans
- Introns
- Male
- Microscopy, Electron, Scanning
- *Mutation
- Pedigree
- Phenotype
- Protein Multimerization
- RNA Splicing
- Transfection
- Young Adult
Citation (ISO format)
VORJOHANN, Silja et al. Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob “A”. In: Thrombosis and haemostasis, 2010, vol. 104, n° 5, p. 990–997. doi: 10.1160/TH10-03-0161
Main files (1)
Article (Accepted version)
Identifiers
- PID : unige:20665
- DOI : 10.1160/TH10-03-0161
- PMID : 20806111
ISSN of the journal0340-6245