THE MOLECULAR-BIOLOGY OF NORRIES-DISEASE

被引：12

作者：

BLACK, G

REDMOND, RM

机构：

[1] MOORFIELDS EYE HOSP,LONDON EC1V 2PD,ENGLAND

[2] DEPT BIOCHEM,GENET LAB,OXFORD,ENGLAND

来源：

EYE | 1994年 / 8卷

关键词：

GENE CLONING; LEUCOCORIA; RETINAL DYSPLASIA;

D O I：

10.1038/eye.1994.124

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

The Norrie's disease gene has been accurately located on the short arm of the X chromosome. The methodology underlying this achievement and the structure of the three-exon gene is described in this review article. The clinical implications of these recent advances are discussed. Allelic variants of Norrie's disease and the phenomenon of females affected by X-linked disease are also discussed.

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收藏

页码：491 / 496

页数：6

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