Article
MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells.
Investigative ophthalmology & visual science - 1 May 2004
McHenry Christina L, Liu Yuhui, Feng Wei, Nair Anita R, Feathers Kecia L, Ding Xiaoling, Gal Andreas, Vollrath Douglas, Sieving Paul A, Thompson Debra A
Abstract excerpt
PURPOSE: Mutations in the MERTK gene are responsible for retinal degeneration in the Royal College of Surgeons (RCS) rat and are a cause of human autosomal recessive retinitis pigmentosa (RP). This study reports the identification and functional analysis of novel MERTK mutations to provide information regarding whether they are causative of severe rod-cone degeneration in a young patient. METHODS: MERTK missense...
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