Article
RRH, encoding the RPE-expressed opsin-like peropsin, is not mutated in retinitis pigmentosa and allied diseases.
Ophthalmic genetics - 1 Mar 2007
Ksantini Mohamed, Sénéchal Audrey, Humbert Ghyslaine, Arnaud Bernard, Hamel Christian P
Abstract excerpt
Many genes from retinoid metabolism cause retinitis pigmentosa. Peropsin, an opsin-like protein with unknown function, is specifically expressed in apical retinal pigment epithelium microvilli. Since rhodopsin and RGR, another opsin-like protein, cause retinitis pigmentosa, we used D-HPLC to screen for the peropsin gene RRH in 331 patients (288 with retinitis pigmentosa and 82 with other retinal dystrophies). We...
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