COMPLEMENTARY-DNA PROBES FOR THE DUCHENNE MUSCULAR-DYSTROPHY LOCUS DEMONSTRATE A PREVIOUSLY UNDETECTABLE DELETION IN A PATIENT WITH DYSTROPHIC MYOPATHY, GLYCEROL KINASE-DEFICIENCY, AND CONGENITAL ADRENAL HYPOPLASIA

被引:62
作者
MCCABE, ERB
TOWBIN, J
CHAMBERLAIN, J
BAUMBACH, L
WITKOWSKI, J
VANOMMEN, GJB
KOENIG, M
KUNKEL, LM
SELTZER, WK
机构
[1] UNIV LEIDEN,DEPT HUMAN GENET,LEIDEN,NETHERLANDS
[2] UNIV COLORADO,SCH MED,DEPT GENET,DENVER,CO 80262
[3] BAYLOR COLL MED,DEPT PEDIAT,HOUSTON,TX 77030
[4] HARVARD UNIV,CHILDRENS HOSP,SCH MED,DEPT PEDIAT,BOSTON,MA 02115
[5] HOWARD HUGHES MED INST,BOSTON,MA 02115
[6] UNIV COLORADO,SCH MED,DEPT PEDIAT & BIOCHEM,DENVER,CO 80262
[7] UNIV COLORADO,SCH MED,DEPT BIOPHYS,DENVER,CO 80262
关键词
D O I
10.1172/JCI113890
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
引用
收藏
页码:95 / 99
页数:5
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