Open Access174delG Mutation in Mouse MFRP Causes Photoreceptor Degeneration and RPE Atrophy
Author(s) -
Joseph Fogerty,
Joseph C. Besharse
Publication year - 2011
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.11-8112
Subject(s) - degeneration (medical) , atrophy , mutation , geographic atrophy , retinal degeneration , biology , genetics , macular degeneration , medicine , ophthalmology , gene
The authors have identified a recessive mutation causing progressive retinal degeneration, white fundus flecks, and eventual retinal pigment epithelium (RPE) atrophy. The goal of these studies was to characterize the retinal phenotype, to identify the causative locus, and to examine possible functions of the affected gene.
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