Type 2B von Willebrand's disease in thirteen individuals from five unrelated Australian families: phenotype and genotype correlations

Keyphrases

• Genotype-phenotype Correlation 100%
• Type 2B Von Willebrand Disease 100%
• Von Willebrand Factor 60%
• Australia 40%
• Platelets 20%
• Platelet Glycoprotein Ib 20%
• Receptor Complex 20%
• Amino Acid Substitution 20%
• Gain-of-function mutation 20%
• Disease Reporting 20%
• Causative mutation 20%
• Phenotypic Abnormalities 20%
• A1 Domain 20%
• Glycoprotein Ib-IX-V 20%

Biochemistry, Genetics and Molecular Biology

• Genotyping 100%
• Von Willebrand Disease 100%
• Von Willebrand Factor 60%
• Gain of Function Mutation 20%
• Glycoprotein Ib 20%
• Blood Plasma 20%
• Platelet 20%

Immunology and Microbiology

• Platelet 100%
• Blood Plasma 50%
• Glycoprotein 50%
• Gain of Function Mutation 50%