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]
- Blood Oct 1996
- 2559-68 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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