Combined factor V - factor VIII deficiency (F5F8D): compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patient
Published inThrombosis and haemostasis, vol. 95, no. 5, p. 893-895
Publication date2006
Keywords
- Child, Preschool
- Codon, Nonsense
- Consanguinity
- Factor V Deficiency/etiology/ genetics
- Female
- Hemophilia A/etiology/ genetics
- Heterozygote
- Humans
- Mannose-Binding Lectins/ genetics
- Membrane Proteins/ genetics
- Pedigree
Affiliation entities
Citation (ISO format)
FARAH, R. A. et al. Combined factor V - factor VIII deficiency (F5F8D): compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patient. In: Thrombosis and haemostasis, 2006, vol. 95, n° 5, p. 893–895. doi: 10.1160/th06-01-0051
Main files (1)
Article
Identifiers
- PID : unige:8741
- DOI : 10.1160/th06-01-0051
- PMID : 16676083
Journal ISSN0340-6245
