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See Latest ArticlesFamilial mediterranean fever with a single MEFV mutation: Where is the second hit
Arthritis & Rheumatism, 06/10/09
Booty MG et al. - The data underscore the existence of a significant subset of FMF patients who are carriers of only 1 MEFV mutation and demonstrate that complete MEFV sequencing is not likely to yield a second mutation. Screening for the set of the most common mutations and detection of a single mutation appears to be sufficient in the presence of clinical symptoms for the diagnosis of FMF and the initiation of a trial of colchicine.
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