Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain

Keyphrases

• Polypeptide 100%
• Catalytic Domain 100%
• Factor XI Deficiency 100%
• Autosomal Recessive 66%
• Co-transfection 66%
• Ashkenazi Jews 66%
• Fibroblasts 33%
• Family History 33%
• Cell Lysate 33%
• Co-immunoprecipitation (co-IP) 33%
• Disease Transmission 33%
• Dimer Formation 33%
• Heterodimer Formation 33%
• Single Amino Acid Substitution 33%
• Mutant Alleles 33%
• Heterozygote 33%
• Dominant Negative Effect 33%
• Bleeding Diathesis 33%
• Homodimeric 33%
• Formation Factor 33%
• Plasma Factors 33%
• Dominant Disease 33%
• Hereditary Factors 33%

Biochemistry, Genetics and Molecular Biology

• Enzyme Active Site 100%
• Factor XI 100%
• Wild Type 33%
• Secretion (Process) 13%
• Autosomal Recessive Inheritance 13%
• Allele 6%
• Cell Lysate 6%
• Dimerization 6%
• Immunoprecipitation 6%
• Amino Acid Substitution 6%
• Bleeding Diathesis 6%
• Plasma Factor 6%
• Fibroblast 6%