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

[31] MARFAN-SYNDROME - ABNORMAL ALPHA-2 CHAIN IN TYPE-I COLLAGEN
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[32] DETERMINATION OF A NEW COLLAGEN TYPE-I ALPHA-2 GENE POINT MUTATION WHICH CAUSES A GLY640 CYS SUBSTITUTION IN OSTEOGENESIS IMPERFECTA AND PRENATAL-DIAGNOSIS BY DNA HYBRIDIZATION
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[33] THE MOLECULAR DEFECT IN AN AUTOSOMAL DOMINANT FORM OF OSTEOGENESIS IMPERFECTA - SYNTHESIS OF TYPE-I PROCOLLAGEN CONTAINING CYSTEINE IN THE TRIPLE-HELICAL DOMAIN OF PRO-ALPHA1(I) CHAINS
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[38] Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen
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