A Japanese Patient with Familial Mediterranean Fever Associated with Compound Heterozygosity for Pyrin Variant E148Q/M694I
Author:
Affiliation:
1. Third Department of Medicine, Shinshu University School of Medicine, Matsumoto
2. Department of Neurology, Suwa Red Cross Hospital, Suwa
Publisher
Japanese Society of Internal Medicine
Subject
General Medicine,Internal Medicine
Link
http://www.jstage.jst.go.jp/article/internalmedicine/44/3/44_3_261/_pdf
Reference17 articles.
1. Familial Mediterranean fever
2. Hereditary Periodic Fever
3. 3) Booth DR, Gillmore JD, Lachmann HJ. The genetic basis of autosomal dominant familial Mediterranean fever. QJM 93: 217-221, 2000.
4. MEFV-Gene Analysis in Armenian Patients with Familial Mediterranean Fever: Diagnostic Value and Unfavorable Renal Prognosis of the M694V Homozygous Genotype—Genetic and Therapeutic Implications
5. 5) Shinozaki K, Agematsu K, Yasui K, et al. Familial Mediterranean fever in 2 Japanese families. J Rheumatol 29: 1324-1325, 2002.
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