Article
Genotype-phenotype correlation in a large group of Turkish patients with familial mediterranean fever: evidence for mutation-independent amyloidosis.
Rheumatology (Oxford, England) - 1 Jan 2000
Yalçinkaya F, Cakar N, Misirlioğlu M, Tümer N, Akar N, Tekin M, Taştan H, Koçak H, Ozkaya N, Elhan A H
Abstract excerpt
OBJECTIVES: Differences in clinical manifestations of familial Mediterranean fever (FMF) between different ethnic groups have been documented. The FMF gene was recently cloned and four missense mutations (Met694Val, Met680Ile, Val726Ala, and Met694Ile) that account for a large percentage of the patients were identified. The results of initial mutation studies have led to the hypothesis that phenotypic variation...
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