The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever

Keyphrases

• Mutant Alleles 100%
• Familial Mediterranean Fever 100%
• Clinical Profile 100%
• E148Q 100%
• Homozygote 42%
• M694V 42%
• Severely Affected 28%
• MEFV Gene 28%
• Phenotypic Profile 14%
• Clinical Features 14%
• Autosomal Recessive 14%
• Compound Heterozygous mutation 14%
• Genotype 14%
• Polymorphism 14%
• Severe Disease 14%
• Well-defined 14%
• Fever 14%
• Recurring 14%
• Penetrance 14%
• M694V mutation 14%
• Familial Mediterranean Fever Patient 14%
• Allelic Heterogeneity 14%
• Sequence Modification 14%
• Disease Expression 14%
• Reduced Penetrance 14%
• Clinical Variability 14%
• Renal Amyloidosis 14%
• Serositis 14%
• Allelic Variability 14%
• E148Q mutation 14%

Neuroscience

• Autosomal Recessive Disorder 100%
• Gene Mutation 100%
• Amyloidosis 100%

Biochemistry, Genetics and Molecular Biology

• Allele 100%
• MEFV 100%
• Homozygote 33%
• Penetrance 22%
• Gene Mutation 11%
• Autosomal Recessive Disorder 11%
• Amyloidosis 11%