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Q J Med 2002; 95: 332-333
© 2002 Association of Physicians

Correspondence

Pyrin Q148 mutation and familial Mediterranean fever

S. Ozen, N. Besbas and A. Bakkaloglu

Department of Paediatric Nephrology and Rheumatology

E. Yilmaz

Department of Molecular Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey, e-mail: sozen@gen.hun.edu.tr

Sir,

Familial Mediterranean fever (FMF) is an auto-inflammatory disease with an autosomal recessive inheritance. Defects in the protein pyrin cause the characteristic attacks of the disease.1,2 More than 20 mutations have been identified in the gene coding pyrin. Booth et al.3 recently presented their studies in an interesting mutation, the E148Q mutation, in different populations. . . . [Full Text of this Article]

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Home page
 Ann Rheum DisHome page
R Topaloglu, F Ozaltin, E Yilmaz, S Ozen, B Balci, N Besbas, and A Bakkaloglu
E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever
Ann Rheum Dis, May 1, 2005; 64(5): 750 - 752.
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