Deletion of 3 residues from the C-terminus of MCFD2 affects binding to ERGIC-53 and causes combined factor V and factor VIII deficiency
Published inBlood, vol. 111, no. 3, p. 1299-1301
Publication date2008
Abstract
Keywords
- Amino Acid Sequence
- Child
- Factor V Deficiency/genetics/metabolism
- Female
- Gene Deletion
- Hemophilia A/genetics/metabolism
- Humans
- Male
- Mannose-Binding Lectins/metabolism
- Membrane Proteins/metabolism
- Molecular Sequence Data
- Protein Binding
- Vesicular Transport Proteins/chemistry/genetics/metabolism
Citation (ISO format)
NYFELER, Beat et al. Deletion of 3 residues from the C-terminus of MCFD2 affects binding to ERGIC-53 and causes combined factor V and factor VIII deficiency. In: Blood, 2008, vol. 111, n° 3, p. 1299–1301. doi: 10.1182/blood-2007-09-112854
Main files (1)
Article (Accepted version)
Identifiers
- PID : unige:1807
- DOI : 10.1182/blood-2007-09-112854
- PMID : 17971482
ISSN of the journal0006-4971