POINT MUTATION IN A BECKER MUSCULAR-DYSTROPHY PATIENT

被引:25
作者
ROBERTS, RG [1 ]
PASSOSBUENO, MR [1 ]
BOBROW, M [1 ]
VAINZOF, M [1 ]
ZATZ, M [1 ]
机构
[1] UNIV SAO PAULO,INST BIOCIENCIAS,DEPT BIOL,SAO PAULO,BRAZIL
关键词
D O I
10.1093/hmg/2.1.75
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:75 / 77
页数:3
相关论文
共 24 条
[1]  
BEGGS AH, 1990, HUM GENET, V86, P45
[2]  
BEGGS AH, 1991, AM J HUM GENET, V49, P54
[3]   POINT MUTATION IN THE HUMAN DYSTROPHIN GENE - IDENTIFICATION THROUGH WESTERN-BLOT-ANALYSIS [J].
BULMAN, DE ;
GANGOPADHYAY, SB ;
BEBCHUCK, KG ;
WORTON, RG ;
RAY, PN .
GENOMICS, 1991, 10 (02) :457-460
[4]  
CHAMBERLAIN JS, 1989, PCR PROTOCOLS GUIDE, P272
[5]   TRANSCRIPTION OF THE DYSTROPHIN GENE IN HUMAN-MUSCLE AND NON-MUSCLE TISSUES [J].
CHELLY, J ;
KAPLAN, JC ;
MAIRE, P ;
GAUTRON, S ;
KAHN, A .
NATURE, 1988, 333 (6176) :858-860
[6]   CONSTRUCTION OF A 2.6-MB CONTIG IN YEAST ARTIFICIAL CHROMOSOMES SPANNING THE HUMAN DYSTROPHIN GENE USING AN STS-BASED APPROACH [J].
COFFEY, AJ ;
ROBERTS, RG ;
GREEN, ED ;
COLE, CG ;
BUTLER, R ;
ANAND, R ;
GIANNELLI, F ;
BENTLEY, DR .
GENOMICS, 1992, 12 (03) :474-484
[7]  
DENDUNNEN JT, 1989, AM J HUM GENET, V45, P835
[8]   MOLECULAR PATHOLOGY OF HAEMOPHILIA-B [J].
GREEN, PM ;
BENTLEY, DR ;
MIBASHAN, RS ;
NILSSON, IM ;
GIANNELLI, F .
EMBO JOURNAL, 1989, 8 (04) :1067-1072
[9]   DYSTROPHIN - THE PROTEIN PRODUCT OF THE DUCHENNE MUSCULAR-DYSTROPHY LOCUS [J].
HOFFMAN, EP ;
BROWN, RH ;
KUNKEL, LM .
CELL, 1987, 51 (06) :919-928
[10]   CHARACTERIZATION OF DYSTROPHIN IN MUSCLE-BIOPSY SPECIMENS FROM PATIENTS WITH DUCHENNES OR BECKERS MUSCULAR-DYSTROPHY [J].
HOFFMAN, EP ;
FISCHBECK, KH ;
BROWN, RH ;
JOHNSON, M ;
MEDORI, R ;
LOIKE, JD ;
HARRIS, JB ;
WATERSTON, R ;
BROOKE, M ;
SPECHT, L ;
KUPSKY, W ;
CHAMBERLAIN, J ;
CASKEY, CT ;
SHAPIRO, F ;
KUNKEL, LM .
NEW ENGLAND JOURNAL OF MEDICINE, 1988, 318 (21) :1363-1368