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

来源：

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

页码：95 / 99

页数：5

共 29 条

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