Article
The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLA.
Clinical genetics - 1 Jul 2013
Ong F S, Vakil H, Xue Y, Kuo J Z, Shah K H, Lee R B, Bernstein K E, Rimoin D L, Getzug T, Das K, Deignan J L, Rotter J I, Grody W W
Abstract excerpt
Familial Mediterranean fever (FMF), inherited in an autosomal recessive manner, is a systemic auto-inflammatory disorder characterized by recurrent attacks of fever with peritonitis, pleuritis, synovitis and erysipeloid rash. The marenostrin-encoding fever (MEFV) gene, located on chromosome 16p13.3, is the only gene in which mutations are currently known to cause FMF. To correlate specific genotypes with adverse...
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