MOLECULAR DEFECTS OF TYPE-III PROCOLLAGEN IN EHLERS-DANLOS SYNDROME TYPE-IV

被引：87

作者：

SUPERTIFURGA, A

STEINMANN, B

RAMIREZ, F

BYERS, PH

机构：

[1] SUNY HLTH SCI CTR,MORSE INST MOLEC GENET,DEPT MICROBIOL & IMMUNOL,BROOKLYN,NY 11203

[2] UNIV WASHINGTON,DEPT MED,SEATTLE,WA 98195

[3] UNIV WASHINGTON,DEPT PATHOL,SEATTLE,WA 98195

[4] UNIV WASHINGTON,CTR INHERITED DIS,SEATTLE,WA 98195

来源：

HUMAN GENETICS | 1989年 / 82卷 / 02期

关键词：

D O I：

10.1007/BF00284038

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：104 / 108

页数：5

共 24 条

[1] LOW PRODUCTION OF PROCOLLAGEN-III BY SKIN FIBROBLASTS FROM PATIENTS WITH EHLERS-DANLOS SYNDROME TYPE-IV IS NOT CAUSED BY DECREASED LEVELS OF PROCOLLAGEN-III MESSENGER-RNA [J].

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[2]

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[3] PROTEOLYTIC-ENZYMES AS PROBES FOR THE TRIPLE-HELICAL CONFORMATION OF PROCOLLAGEN [J].

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PROCKOP, DJ .

ANALYTICAL BIOCHEMISTRY, 1981, 110 (02) :360-368

[4]

Byers P H, 1987, Curr Probl Dermatol, V16, P158

[5]

BYERS PH, 1988, AM J HUM GENET, V42, P237

[6]

BYERS PH, 1981, LAB INVEST, V44, P336

[7]

BYERS PH, 1983, PRINCIPLES PRACTICE, P836

[8] INTERNAL DELETION IN A COLLAGEN GENE IN A PERINATAL LETHAL FORM OF OSTEOGENESIS IMPERFECTA [J].

CHU, ML ;

WILLIAMS, CJ ;

PEPE, G ;

HIRSCH, JL ;

PROCKOP, DJ ;

RAMIREZ, F .

NATURE, 1983, 304 (5921) :78-80

[9]

KADLERKE, 1988, COLLAGEN REL RES, V8, P505

[10]

LAKSEY RA, 1975, EUR J BIOCHEM, V56, P335

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