Late-Onset Cone Photoreceptor Degeneration Induced by R172W Mutation in Rds and Partial Rescue by Gene Supplementation | Zendy

Shan M. Conley | Zendy; May Nour | Zendy; Steven J. Fliesler | Zendy; Muna I. Naash | Zendy

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Late-Onset Cone Photoreceptor Degeneration Induced by R172W Mutation in Rds and Partial Rescue by Gene Supplementation

Author(s) -

Shan M. Conley,

May Nour,

Steven J. Fliesler,

Muna I. Naash

Publication year - 2007

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.07-0663

Subject(s) - retinal degeneration , peripherin , biology , transgene , electroretinography , mutation , phenotype , retinitis pigmentosa , genetically modified mouse , genetics , retinal , gene , biochemistry

R172W is a common mutation in the human retinal degeneration slow (RDS) gene, associated with a late-onset dominant macular dystrophy. In this study, the authors characterized a mouse model that closely mimics the human phenotype and tested the feasibility of gene supplementation as a disease treatment strategy.

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