Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion
Contributeurs/tricesVu, Dung; De Moerloose, Philippe; Batorova, A.; Lazur, J.; Palumbo, L.; Neerman Arbez, Marguerite
Publié dansJournal of medical genetics, vol. 42, no. 9, e57
Date de publication2005
Résumé
Mots-clés
- Adult
- Afibrinogenemia/blood/ genetics
- Amino Acid Sequence
- Animals
- COS Cells
- Cercopithecus aethiops/metabolism
- Crystallography, X-Ray
- Exons
- Female
- Fibrinogen/chemistry/genetics/ metabolism/ secretion
- Heterozygote
- Humans
- Models, Molecular
- Molecular Sequence Data
- Mutation, Missense
- Protein Structure, Tertiary
- Sequence Alignment
- Slovakia
- Transfection
Structure d'affiliation Pas une publication de l'UNIGE
Citation (format ISO)
VU, Dung et al. Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion. In: Journal of medical genetics, 2005, vol. 42, n° 9, p. e57. doi: 10.1136/jmg.2005.033530
Fichiers principaux (1)
Article
Identifiants
- PID : unige:9080
- DOI : 10.1136/jmg.2005.033530
- PMID : 16141000
ISSN du journal0022-2593