MOLECULAR-GENETICS OF RETINITIS-PIGMENTOSA

被引:228
作者
DRYJA, TP [1 ]
LI, T [1 ]
机构
[1] HARVARD UNIV,MASSACHUSETTS EYE & EAR INFIRM,SCH MED,BERMAN GUND LAB STUDY RETINAL DEGENERAT,BOSTON,MA 02114
关键词
D O I
10.1093/hmg/4.suppl_1.1739
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
Hereditary degenerations and dysfunctions of the retina are an extremely heterogeneous group of diseases. This summary deals with recent advances in the molecular genetics of a subset of those disorders, namely, those encompassed under the diagnosis 'retinitis pigmentosa'. Over 20 loci where mutations cause retinitis pigmentosa have been mapped; the review focuses on the seven retinitis pigmentosa loci that have been identified.
引用
收藏
页码:1739 / 1743
页数:5
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