MOLECULAR AND CLINICAL CORRELATIONS OF DELETIONS LEADING TO DUCHENNE AND BECKER MUSCULAR-DYSTROPHIES

被引:166
作者
BAUMBACH, LL [1 ]
CHAMBERLAIN, JS [1 ]
WARD, PA [1 ]
FARWELL, NJ [1 ]
CASKEY, CT [1 ]
机构
[1] BAYLOR COLL MED, HOWARD HUGHES MED INST, HOUSTON, TX 77030 USA
关键词
D O I
10.1212/WNL.39.4.465
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:465 / 474
页数:10
相关论文
共 27 条
[1]  
APPEL SH, 1983, METABOLIC BASIS INHE, P1470
[2]   HYPOXANTHINE AND MCARDLE DISEASE - A CLUE TO METABOLIC STRESS IN THE WORKING FOREARM [J].
BROOKE, MH ;
PATTERSON, VH ;
KAISER, KK .
MUSCLE & NERVE, 1983, 6 (03) :204-206
[3]   A CDNA CLONE FROM THE DUCHENNE BECKER MUSCULAR-DYSTROPHY GENE [J].
BURGHES, AHM ;
LOGAN, C ;
HU, XY ;
BELFALL, B ;
WORTON, RG ;
RAY, PN .
NATURE, 1987, 328 (6129) :434-437
[4]  
CASKEY CT, 1980, CLIN GENET, V18, P329
[5]   DELETION SCREENING OF THE DUCHENNE MUSCULAR-DYSTROPHY LOCUS VIA MULTIPLEX DNA AMPLIFICATION [J].
CHAMBERLAIN, JS ;
GIBBS, RA ;
RANIER, JE ;
NGUYEN, PN ;
CASKEY, CT .
NUCLEIC ACIDS RESEARCH, 1988, 16 (23) :11141-11156
[6]   DIRECT DETECTION OF MORE THAN 50-PERCENT OF THE DUCHENNE MUSCULAR-DYSTROPHY MUTATIONS BY FIELD INVERSION GELS [J].
DENDUNNEN, JT ;
BAKKER, E ;
BRETELER, EGK ;
PEARSON, PL ;
VANOMMEN, GJB .
NATURE, 1987, 329 (6140) :640-642
[7]   IDENTIFICATION OF GERMLINE AND SOMATIC MUTATIONS AFFECTING THE RETINOBLASTOMA GENE [J].
DUNN, JM ;
PHILLIPS, RA ;
BECKER, AJ ;
GALLIE, BL .
SCIENCE, 1988, 241 (4874) :1797-1800
[8]  
EMERY AEH, 1987, OXFORD MONOGRAPHS ME, V15, P151
[9]   A TECHNIQUE FOR RADIOLABELING DNA RESTRICTION ENDONUCLEASE FRAGMENTS TO HIGH SPECIFIC ACTIVITY [J].
FEINBERG, AP ;
VOGELSTEIN, B .
ANALYTICAL BIOCHEMISTRY, 1983, 132 (01) :6-13
[10]  
FORREST S M, 1988, Genomics, V2, P109, DOI 10.1016/0888-7543(88)90091-2