Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns

被引：219

作者：

Rivolta, C

Sharon, D

DeAngelis, MM

Dryja, TP

机构：

[1] Harvard Univ, Sch Med, Ocular Mol Genet Inst, Boston, MA 02114 USA

[2] Massachusetts Eye & Ear Infirm, Boston, MA 02114 USA

来源：

HUMAN MOLECULAR GENETICS | 2002年 / 11卷 / 10期

关键词：

D O I：

10.1093/hmg/11.10.1219

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：

Retinitis pigmentosa (RP) and allied diseases are heterogeneous clinically and genetically. Here we summarize the retinal cell types involved in these diseases, the large number of genes that cause them, and the variety of inheritance patterns that the affected families display. Special consideration is given to unusual inheritance patterns. The aggregate carrier frequency for recessive RP alleles may be as high as 10%.

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页码：1219 / 1227

页数：9

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