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Article

Is E148Q a Benign Polymorphism or a Disease-causing Mutation?: Table 1.

1 Oct 2009

Abstract excerpt

Familial Mediterranean fever (FMF) is an inherited disorder characterized by recurrent episodes of fever accompanied by sterile peritonitis, arthritis, pleuritis, and a typical inflammatory rash termed erysipelas-like erythema. The development of renal amyloidosis type AA is the most devastating manifestation of the disease, and prior to colchicine treatment was a major cause of morbidity and mortality. The...

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PMID: 19820229
DOI: 10.3899/jrheum.090250

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Is E148Q a Benign Polymorphism or a Disease-causing Mutation?: Table 1.PMID 19820229Read ↗

E148Q variant: a familial Mediterranean fever-causing mutation or a sequence variant?Semantic proximity Read ↗

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