A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency

Keyphrases

• Missense mutation 100%
• Factor XI Deficiency 100%
• Mild Forms 100%
• Activation Loop 100%
• Type II Factor 100%
• Factor 9 66%
• Molecular Characterization 33%
• Gene mutation 33%
• Autosomal Recessive 33%
• Active Form 33%
• Thrombin 33%
• Recombinant Protein 33%
• Antigen Levels 33%
• Serine Protease 33%
• Laboratory Analysis 33%
• Proteolytic Activation 33%
• Heterozygous State 33%
• Bleeding Symptoms 33%
• Blood Coagulation 33%
• Expression Experiments 33%
• Functional Characterization 33%
• Zymogen 33%
• Functional Factors 33%
• Coagulation Factor XI 33%
• Zymogen Activation 33%
• Old Italian 33%
• Activation Sites 33%
• Activated Factor XI 33%

Biochemistry, Genetics and Molecular Biology

• Missense Mutation 100%
• Factor XI 100%
• Zymogen 16%
• Factor IX 16%
• Autosomal Recessive Disorder 8%
• Recombinant Protein 8%
• Coagulation System 8%
• Coagulation Factor XI 8%
• Gene Mutation 8%
• Serine Protease 8%
• Blood Plasma 8%
• Thrombin 8%