OSTEOGENESIS IMPERFECTA - TRANSLATION OF MUTATION TO PHENOTYPE

被引：244

作者：

BYERS, PH

WALLIS, GA

WILLING, MC

机构：

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

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

来源：

JOURNAL OF MEDICAL GENETICS | 1991年 / 28卷 / 07期

关键词：

BIPOLAR FEMORAL PROSTHESIS; TRIPLE-HELICAL DOMAIN; SINGLE BASE MUTATION; ALPHA-2(I) COLLAGEN GENE; LETHAL POINT MUTATION; I COLLAGEN; MESSENGER-RNA; FRAMESHIFT MUTATION; PRO-ALPHA-1(I) CHAINS; ASYMPTOMATIC MOTHER;

D O I：

10.1136/jmg.28.7.433

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：433 / 442

页数：10

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