TYPE-I PROCOLLAGEN - THE GENE-PROTEIN SYSTEM THAT HARBORS MOST OF THE MUTATIONS CAUSING OSTEOGENESIS IMPERFECTA AND PROBABLY MORE COMMON HERITABLE DISORDERS OF CONNECTIVE-TISSUE

被引：94

作者：

PROCKOP, DJ

CONSTANTINOU, CD

DOMBROWSKI, KE

HOJIMA, Y

KADLER, KE

KUIVANIEMI, H

TROMP, G

VOGEL, BE

机构：

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1989年 / 34卷 / 01期

关键词：

D O I：

10.1002/ajmg.1320340112

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：60 / 67

页数：8

共 67 条

[11]

BONADIO J, 1988, COLLAGEN REL RES, V8, P506

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

BRUCKNER, P ;

PROCKOP, DJ .

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

[13]

Byers P.H., 2014, GENETIC METABOLIC DI, P56

[14]

BYERS PH, 1988, COLLAGEN REL RES, V8, P500

[15]

BYERS PH, 1988, J BIOL CHEM, V263, P7855

[16] ABNORMAL ALPHA-2-CHAIN IN TYPE-I COLLAGEN FROM A PATIENT WITH A FORM OF OSTEOGENESIS IMPERFECTA [J].

BYERS, PH ;

SHAPIRO, JR ;

ROWE, DW ;

DAVID, KE ;

HOLBROOK, KA .

JOURNAL OF CLINICAL INVESTIGATION, 1983, 71 (03) :689-697

[17]

CHU ML, 1985, J BIOL CHEM, V260, P691

[18] 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

[19]

COHN DH, 1988, COLLAGEN REL RES, V8, P501

[20] LETHAL OSTEOGENESIS IMPERFECTA RESULTING FROM A SINGLE NUCLEOTIDE CHANGE IN ONE HUMAN PRO-ALPHA-1(I) COLLAGEN ALLELE [J].

COHN, DH ;

BYERS, PH ;

STEINMANN, B ;

GELINAS, RE .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (16) :6045-6047

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