May 28, 2009Open Access

Familial mediterranean fever with a single MEFV mutation: Where is the second hit?

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Abstract

Our 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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Booty et al. (Thu,) studied this question.

synapsesocial.com/papers/69d7fd3945af6083e6ae299e https://doi.org/https://doi.org/10.1002/art.24569

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1Association between reduced levels of <i>MEFV</i> messenger RNA in peripheral blood leukocytes and acute inflammation2006 · 25 citations
2FUGUE: sequence-structure homology recognition using environment-specific substitution tables and structure-dependent gap penalties11Edited by B. Honig2001 · 1,209 citations
3Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.1997 · 668 citations
4A candidate gene for familial Mediterranean fever1997 · 1,548 citations
5Genetic linkage study of familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity in the Turkish population.1997 · 48 citations

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