Mancuso, D J

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