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：13

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 50 条

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[22] MUTATIONS LINKED TO THE PRO ALPHA-2(I) COLLAGEN GENE ARE RESPONSIBLE FOR SEVERAL CASES OF OSTEOGENESIS IMPERFECTA TYPE-I
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[23] STRUCTURAL DEFECT IN TYPE-I COLLAGEN FROM 2 PATIENTS OF THE SAME FAMILY WITH A SEVERE FORM OF OSTEOGENESIS IMPERFECTA TYPE-III
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[30] SSCP DETECTION OF A GLY565VAL SUBSTITUTION IN THE PRO-ALPHA-1(I) COLLAGEN CHAIN RESULTING IN OSTEOGENESIS IMPERFECTA TYPE-II
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