A Japanese Case of Familial Mediterranean Fever with Homozygosity for the Pyrin E148Q Mutation
Author:
Affiliation:
1. Department of Internal Medicine, Omachi City General Hospital
2. Third Department of Medicine, Shinshu University School of Medicine, Matsumoto
Publisher
Japanese Society of Internal Medicine
Subject
General Medicine,Internal Medicine
Link
http://www.jstage.jst.go.jp/article/internalmedicine/44/7/44_7_765/_pdf
Reference5 articles.
1. Hereditary Periodic Fever
2. 2) Shinozaki K, Agematsu K, Yasui K, et al. Familial Mediterranean fever in 2 Japanese families. J Rheumatol 29: 1324-1325, 2002.
3. 3) Ben-Chetrit E, Lerer I, Malamud E, Domingo C, Abeliovich D. The E148Q mutation in the MEFV gene: is it a disease-causing mutation or sequence variant? Hum Mutat 15: 385-386, 2000.
4. 4) Tchernitchko D, Legendre M, Cazeneuve C, Delahaye A, Niel F, Amselem S. The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever. Hum Mutat 22: 339-340, 2003.
5. 5) Booth DR, Lachmann HJ, Gillmore JD, Booth SE, Hawkins PN. Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148. Q J M 94: 527-531, 2001.
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