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Genotype Mutations in Egyptian Children with Familial Mediterranean Fever: Clinical Profile, and Response to Colchicine

1 Jan 2020

Abstract excerpt

BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder that is characterized by recurrent episodes of fever, peritonitis, pleuritis, pericarditis, and/or arthritis. MEFV is the responsible gene for FMF, of which more than 310 mutations have been reported; M694V, M694I, V726A, E148Q, and M680I mutations are the five most frequent mutations responsible for the majority of...

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PMID: 32676558
DOI: 10.31138/mjr.31.2.206

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