ARGININE FOR GLYCINE SUBSTITUTION IN THE TRIPLE-HELICAL DOMAIN OF THE PRODUCTS OF ONE ALPHA-2(I) COLLAGEN ALLELE (COL1A2) PRODUCES THE OSTEOGENESIS IMPERFECTA TYPE-IV PHENOTYPE

被引：1

作者：

WENSTRUP, RJ

COHN, DH

COHEN, T

BYERS, PH

机构：

[1] UNIV WASHINGTON, DEPT PEDIAT, SEATTLE, WA 98195 USA

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

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

[4] HADASSAH UNIV HOSP, DEPT MED GENET, IL-91120 JERUSALEM, ISRAEL

来源：

JOURNAL OF BIOLOGICAL CHEMISTRY | 1988年 / 263卷 / 16期

关键词：

D O I：

暂无

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：

引用

页码：7734 / 7740

页数：7

共 50 条

[1] A GLYCINE TO ARGININE SUBSTITUTION IN THE TRIPLE HELICAL DOMAIN OF -ALPHA-2(I) COLLAGEN CHAINS PRODUCES OSTEOGENESIS IMPERFECTA (OI) TYPE-IV
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[6] DOMINANTLY INHERITED OSTEOGENESIS IMPERFECTA (OI TYPE-I AND TYPE-IV) IS GENETICALLY LINKED TO THE COL1A1 AND COL1A2 GENES OF TYPE-I COLLAGEN
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[7] A CYSTEINE FOR GLYCINE SUBSTITUTION OUTSIDE OF THE TRIPLE HELICAL DOMAIN OF THE ALPHA-1(I) CHAIN PRODUCES MILD, DOMINANTLY INHERITED OSTEOGENESIS IMPERFECTA
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[8] OSTEOGENESIS IMPERFECTA TYPE-IV - DETECTION OF A POINT MUTATION IN ONE ALPHA-1(I) COLLAGEN ALLELE (COL1A1) BY RNA RNA HYBRID ANALYSIS
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[10] LINKAGE OF MILD OSTEOGENESIS IMPERFECTA TYPE-IV TO COL1A2 - LINKAGE EVIDENCE FOR HETEROGENEITY BETWEEN TYPE-1 AND TYPE-IV 0.1.
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