A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family
Published inBlood coagulation & fibrinolysis, vol. 22, no. 2, p. 148-150
Publication date2011
Abstract
Keywords
- Adult
- Afibrinogenemia/congenital/genetics/physiopathology
- Consanguinity
- Disease Susceptibility
- Exons
- Female
- Fibrinogen/genetics/metabolism
- Frameshift Mutation
- Genetic Association Studies
- Genetic Testing
- Genotype
- Hemorrhage
- Heterozygote
- Homozygote
- Humans
- Male
- Pedigree
- Phenotype
- Syria
Citation (ISO format)
LEVRAT, Emmanuel et al. A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family. In: Blood coagulation & fibrinolysis, 2011, vol. 22, n° 2, p. 148–150. doi: 10.1097/MBC.0b013e32834330d9
Main files (1)
Article (Published version)
Identifiers
- PID : unige:32728
- DOI : 10.1097/MBC.0b013e32834330d9
- PMID : 21245743
ISSN of the journal0957-5235