Article
A Comprehensive Review of Mutations in the MERTK Proto-Oncogene.
Advances in experimental medicine and biology - 1 Jan 2016
Parinot Célia, Nandrot Emeline F
Abstract excerpt
Phagocytosis and elimination of shed aged photoreceptor outer segments (POS) by retinal pigment epithelial cells is crucial for photoreceptor function and survival. Genetic studies on a natural animal model of recessive retinal degeneration allowed the identification of MerTK, the gene encoding the surface receptor required for POS internalization. Following this discovery, screenings of DNA samples from patients...
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