A GLY859SER SUBSTITUTION IN THE TRIPLE-HELICAL DOMAIN OF THE ALPHA-2 CHAIN OF TYPE-I COLLAGEN RESULTING IN OSTEOGENESIS-IMPERFECTA TYPE-III IN 2 UNRELATED INDIVIDUALS

被引：14

作者：

ROSE, NJ

MACKAY, K

BYERS, PH

DALGLEISH, R

机构：

[1] UNIV LEICESTER,DEPT GENET,LEICESTER LE1 7RH,ENGLAND

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

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

来源：

HUMAN MUTATION | 1994年 / 3卷 / 04期

关键词：

D O I：

10.1002/humu.1380030411

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：391 / 394

页数：4

共 23 条

[1] PCR DETECTION OF 5 RESTRICTION SITE DIMORPHISMS AT THE TYPE-I COLLAGEN LOCI COL1A1 AND COL1A2 [J].

BAKER, R ;

LYNCH, J ;

FERGUSON, L ;

PRIESTLEY, L ;

SYKES, B .

NUCLEIC ACIDS RESEARCH, 1991, 19 (15) :4315-4315

[2] CHEMICAL CLEAVAGE METHOD FOR THE DETECTION OF RNA BASE CHANGES - EXPERIENCE IN THE APPLICATION TO COLLAGEN MUTATIONS IN OSTEOGENESIS IMPERFECTA [J].

BATEMAN, JF ;

LAMANDE, SR ;

HANNAGAN, M ;

MOELLER, I ;

DAHL, HHM ;

COLE, WG .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 45 (02) :233-240

[3]

BEIGHTON P, 1985, CLIN GENET, V27, P398

[4]

Byers Peter H., 1993, P317

[5] OSTEOGENESIS IMPERFECTA - TRANSLATION OF MUTATION TO PHENOTYPE [J].

BYERS, PH ;

WALLIS, GA ;

WILLING, MC .

JOURNAL OF MEDICAL GENETICS, 1991, 28 (07) :433-442

[6]

COHN D H, 1990, Matrix, V10, P236

[7] DETECTION OF A HIGH-FREQUENCY RSAI POLYMORPHISM IN THE HUMAN PRO-ALPHA-2(I) COLLAGEN GENE WHICH IS LINKED TO AN AUTOSOMAL DOMINANT FORM OF OSTEOGENESIS IMPERFECTA [J].

GROBLERRABIE, AF ;

WALLIS, G ;

BREBNER, DK ;

BEIGHTON, P ;

BESTER, AJ ;

MATHEW, CG .

EMBO JOURNAL, 1985, 4 (07) :1745-1748

[8] STRUCTURE OF A FULL-LENGTH CDNA CLONE FOR THE PREPRO-ALPHA-2(I) CHAIN OF HUMAN TYPE-I PROCOLLAGEN - COMPARISON WITH THE CHICKEN GENE CONFIRMS UNUSUAL PATTERNS OF GENE CONSERVATION [J].

KUIVANIEMI, H ;

TROMP, G ;

CHU, ML ;

PROCKOP, DJ .

BIOCHEMICAL JOURNAL, 1988, 252 (03) :633-640

[9] 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

[10]

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

← 1 2 3 →