IDENTIFICATION OF TYPE-1 COLLAGEN GENE (COL1A2) MUTATIONS IN NONLETHAL OSTEOGENESIS IMPERFECTA

被引：14

作者：

SZTROLOVICS, R

GLORIEUX, FH

VANDERREST, M

ROUGHLEY, PJ

机构：

[1] SHRINERS HOSP CRIPPLED CHILDREN,GENET UNIT,1529 CEDAR AVE,MONTREAL H3G 1A6,PQ,CANADA

[2] MCGILL UNIV,DEPT MED,MONTREAL H3G 1A6,PQ,CANADA

[3] MCGILL UNIV,DEPT SURG,MONTREAL H3G 1A6,PQ,CANADA

来源：

HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 08期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1093/hmg/2.8.1319

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

[No abstract available]

引用

页码：1319 / 1321

页数：3

共 17 条

[1] ABNORMAL TYPE-I COLLAGEN-METABOLISM BY CULTURED FIBROBLASTS IN LETHAL PERINATAL OSTEOGENESIS IMPERFECTA [J].

BATEMAN, JF ;

MASCARA, T ;

CHAN, D ;

COLE, WG .

BIOCHEMICAL JOURNAL, 1984, 217 (01) :103-115

[2] BRITTLE BONES - FRAGILE MOLECULES - DISORDERS OF COLLAGEN GENE STRUCTURE AND EXPRESSION [J].

BYERS, PH .

TRENDS IN GENETICS, 1990, 6 (09) :293-300

[3]

COHN DH, 1990, MATRIX, V10, pA236

[4] DETECTION AND LOCALIZATION OF BASE CHANGES IN RNA USING A CHEMICAL CLEAVAGE METHOD [J].

DAHL, HHM ;

LAMANDE, SR ;

COTTON, RGH ;

BATEMAN, JF .

ANALYTICAL BIOCHEMISTRY, 1989, 183 (02) :263-268

[5]

FERTALA A, 1990, AM J HUM GENET, V47, pA216

[6] MUTATIONS IN COLLAGEN GENES - CAUSES OF RARE AND SOME COMMON DISEASES IN HUMANS [J].

KUIVANIEMI, H ;

TROMP, G ;

PROCKOP, DJ .

FASEB JOURNAL, 1991, 5 (07) :2052-2060

[7]

LAMANDE SR, 1989, J BIOL CHEM, V264, P15809

[8]

MARINI JC, 1989, J BIOL CHEM, V264, P11893

[9]

MOTTES M, 1992, HUM GENET, V89, P480

[10]

PACK M, 1989, J BIOL CHEM, V264, P19694

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