Article
Novel dominant rhodopsin mutation triggers two mechanisms of retinal degeneration and photoreceptor desensitization.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 10 Mar 2004
Iakhine Roustem, Chorna-Ornan Irit, Zars Troy, Elia Natalie, Cheng Yan, Selinger Zvi, Minke Baruch, Hyde David R
Abstract excerpt
A variety of rod opsin mutations result in autosomal dominant retinitis pigmentosa and congenital night blindness in humans. One subset of these mutations encodes constitutively active forms of the rod opsin protein. Some of these dominant rod opsin mutant proteins, which desensitize transgenic Xenopus rods, provide an animal model for congenital night blindness. In a genetic screen to identify retinal...
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