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]
Producer: 20030318Description: 151-6 p. digitalISSN:- 0006-4971
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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