A Japanese case of familial Mediterranean fever with homozygosity for the pyrin E148Q mutation

被引:10
作者
Suzuki, T [1 ]
Nakamura, A [1 ]
Yazaki, M [1 ]
Ikeda, S [1 ]
机构
[1] Shinshu Univ, Sch Med, Dept Med 3, Matsumoto, Nagano 3908621, Japan
关键词
familial Mediterranean fever; pyrin/marenostrin; MEFV gene; E148Q;
D O I
10.2169/internalmedicine.44.765
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:765 / 766
页数:2
相关论文
共 6 条
[1]  
Ben-Chetrit E, 2000, HUM MUTAT, V15, P385, DOI 10.1002/(SICI)1098-1004(200004)15:4<385::AID-HUMU22>3.0.CO
[2]  
2-A
[3]   Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148 [J].
Booth, DR ;
Lachmann, HJ ;
Gillmore, JD ;
Booth, SE ;
Hawkins, PN .
QJM-AN INTERNATIONAL JOURNAL OF MEDICINE, 2001, 94 (10) :527-531
[4]   Medical progress: Hereditary periodic fever. [J].
Drenth, JPH ;
van der Meer, JWM .
NEW ENGLAND JOURNAL OF MEDICINE, 2001, 345 (24) :1748-1757
[5]  
Shinozaki K, 2002, J RHEUMATOL, V29, P1324
[6]  
Tchernitchko Dimitri, 2003, Hum Mutat, V22, P339, DOI 10.1002/humu.9182