Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations

被引:25
作者
Tchernitchko, D
Legendre, M
Delahaye, A
Cazeneuve, C
Niel, F
Goosens, M
Amselem, S
Girodon, E
机构
[1] Hop Henri Mondor, INSERM, U468, Serv Biochim & Genet Mol,AP,HP, F-94010 Creteil, France
[2] INSERM, U468 Genet Mol & Physiopathol, F-94010 Creteil, France
关键词
D O I
10.1373/clinchem.2003.021212
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
[No abstract available]
引用
收藏
页码:1942 / 1945
页数:4
相关论文
共 14 条
[1]  
Aksentijevich I, 1997, CELL, V90, P797
[2]  
Ben-Chetrit E, 2000, HUM MUTAT, V15, P385, DOI 10.1002/(SICI)1098-1004(200004)15:4<385::AID-HUMU22>3.0.CO
[3]  
2-A
[4]  
Bernot A, 1997, NAT GENET, V17, P25
[5]   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 [J].
Cazeneuve, C ;
Sarkisian, T ;
Pêcheux, C ;
Dervichian, M ;
Nédelec, B ;
Reinert, P ;
Ayvazyan, A ;
Kouyoumdjian, JC ;
Ajrapetyan, H ;
Delpech, M ;
Goossens, M ;
Dodé, C ;
Grateau, G ;
Amselem, S .
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (01) :88-97
[6]   Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis [J].
Chae, JJ ;
Komarow, HD ;
Cheng, J ;
Wood, G ;
Raben, N ;
Liu, PP ;
Kastner, DL .
MOLECULAR CELL, 2003, 11 (03) :591-604
[7]   INFEVERS:: the Registry for FMF and hereditary inflammatory disorders mutations [J].
de Menthière, CS ;
Terrière, S ;
Pugnère, D ;
Ruiz, M ;
Demaille, J ;
Touitou, I .
NUCLEIC ACIDS RESEARCH, 2003, 31 (01) :282-285
[8]  
Dodé C, 2000, AM J MED GENET, V92, P241, DOI 10.1002/(SICI)1096-8628(20000605)92:4<241::AID-AJMG3>3.0.CO
[9]  
2-G
[10]   Diagnosis of familial Mediterranean fever by a molecular genetics method [J].
Eisenberg, S ;
Aksentijevich, I ;
Deng, ZM ;
Kastner, DL ;
Matzner, Y .
ANNALS OF INTERNAL MEDICINE, 1998, 129 (07) :539-+