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
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
收藏
页码:433 / 442
页数:10
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