Type 2M:Milwaukee-1 von Willebrand disease: an in-frame deletion in the Cys509-Cys695 loop of the von Willebrand factor A1 domain causes deficient binding of von Willebrand factor to platelets. [electronic resource]
Producer: 19961107Description: 2559-68 p. digitalISSN:- 0006-4971
- Alleles
- Amino Acid Sequence
- Base Sequence
- Blood Platelets -- metabolism
- Crotalid Venoms -- pharmacology
- DNA Mutational Analysis
- Female
- Heparin -- metabolism
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- Pedigree
- Phenotype
- Platelet Membrane Glycoproteins -- metabolism
- Protein Binding -- drug effects
- Protein Structure, Tertiary
- Receptors, Cell Surface -- metabolism
- Recombinant Fusion Proteins -- metabolism
- Ristocetin -- pharmacology
- Sequence Alignment
- Sequence Deletion
- Sequence Homology
- von Willebrand Diseases -- classification
- von Willebrand Factor -- chemistry
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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