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familial Mediterranean fever.

E148Q as a Familial Mediterranean Fever-causing Mutation: A Clinical-based Study

Issue: 
DOI: 
10.7727/wimj.2016.162
Pages: 
304-8
Synopsis: 
Familial Mediterranean fever (FMF) is a genetic disease. M694V, V726A, M680I, M694I and E148Q are the most frequent mutations. The role of E148Q is still controversial. Our aim was to evaluate the E148Q mutation and compare it with other FMF-causing mutations.

ABSTRACT

Objective: To evaluate the clinical implications of E148Q mutation in familial Mediterranean fever (FMF) patients and compare it with other FMF causing mutations.

Methods: The clinical features of 137 FMF patients with E148Q have been evaluated. Moreover, the clinical features of those patients have been compared with the clinical symptoms of FMF patients with other mutations.

Accepted: 
11 Jul, 2016
PDF Attachment: 
Journal Sections: 
Journal Authors: 
e-Published: 19 Jul, 2016
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