An Arg760Cys mutation in the consensus sequence of the von Willebrand factor propeptide cleavage site is responsible for a new von Willebrand disease variant.
Casonato, Alessandra
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
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