Article
Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC-RPEs model.
Human mutation - 1 Feb 2021
Biswas Pooja, Borooah Shyamanga, Matsui Hiroko, Voronchikhina Marina, Zhou Jason, Zawaydeh Qais, Raghavendra Pongali B, Ferreyra Henry, Riazuddin S Amer, Wahlin Karl, Frazer Kelly A, Ayyagari Radha
Abstract excerpt
Inherited retinal degenerations (IRDs) are a group of genetically heterogeneous conditions with a broad phenotypic heterogeneity. Here, we report detection and validation of the underlying cause of progressive retinal degeneration in a nuclear family of European descent with a single affected individual. Whole genome sequencing of the proband and her unaffected sibling identified a novel intron 8 donor splice...
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