USE OF DENATURING GRADIENT GEL-ELECTROPHORESIS TO IDENTIFY MUTANT SEQUENCES IN THE BETA-GLUCOCEREBROSIDASE GENE

被引:24
作者
LAUBSCHER, KH
GLEW, RH
LEE, RE
OKINAKA, RT
机构
[1] LOS ALAMOS NATL LAB,LOS ALAMOS,NM 87545
[2] UNIV NEW MEXICO,ALBUQUERQUE,NM 87131
[3] UNIV PITTSBURGH,PITTSBURGH,PA 15260
关键词
D O I
10.1002/humu.1380030418
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页码:411 / 415
页数:5
相关论文
共 14 条
[1]   IDENTIFICATION OF 6 NEW GAUCHER DISEASE MUTATIONS [J].
BEUTLER, E ;
GELBART, T ;
WEST, C .
GENOMICS, 1993, 15 (01) :203-205
[2]   METABOLISM OF GLUCOCEREBROSIDES .2. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHERS DISEASE [J].
BRADY, RO ;
KANFER, JN ;
SHAPIRO, D .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1965, 18 (02) :221-&
[3]  
DANIELS LB, 1982, CLIN CHEM, V28, P569
[4]   DNA FRAGMENTS DIFFERING BY SINGLE BASE-PAIR SUBSTITUTIONS ARE SEPARATED IN DENATURING GRADIENT GELS - CORRESPONDENCE WITH MELTING THEORY [J].
FISCHER, SG ;
LERMAN, LS .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1983, 80 (06) :1579-1583
[5]  
GLEW RH, 1988, LAB INVEST, V58, P5
[6]   THE HUMAN GLUCOCEREBROSIDASE GENE AND PSEUDOGENE - STRUCTURE AND EVOLUTION [J].
HOROWITZ, M ;
WILDER, S ;
HOROWITZ, Z ;
REINER, O ;
GELBART, T ;
BEUTLER, E .
GENOMICS, 1989, 4 (01) :87-96
[7]  
KAWAME H, 1992, HUM GENET, V90, P294
[8]  
MYERS RM, 1985, NUCLEIC ACIDS RES, V13, P3131, DOI 10.1093/nar/13.9.3131
[9]   RAPID AND SENSITIVE DETECTION OF POINT MUTATIONS AND DNA POLYMORPHISMS USING THE POLYMERASE CHAIN-REACTION [J].
ORITA, M ;
SUZUKI, Y ;
SEKIYA, T ;
HAYASHI, K .
GENOMICS, 1989, 5 (04) :874-879
[10]   A DEFICIENCY OF GLUCOCEREBROSIDASE IN GAUCHERS DISEASE [J].
PATRICK, AD .
BIOCHEMICAL JOURNAL, 1965, 97 (02) :C17-&