An Arg760Cys mutation in the consensus sequence of the von Willebrand factor propeptide cleavage site is responsible for a new von Willebrand disease variant. [electronic resource]
- Blood Jan 2003
- 151-6 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0006-4971
10.1182/blood-2002-04-1046 doi
Adult Binding Sites--genetics Consensus Sequence--genetics Factor VIII--metabolism Family Health Furin Genetic Variation Humans Male Membrane Proteins Phenotype Point Mutation Protein Precursors--genetics Subtilisins von Willebrand Diseases--classification von Willebrand Factor--genetics