Articles with "opa1 variants" as a keyword



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Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells

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Published in 2022 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddac128

Abstract: Abstract Autosomal dominant optic atrophy (DOA) is the most common inherited optic neuropathy, characterized by the preferential loss of retinal ganglion cells (RGCs), resulting in optic nerve degeneration and progressive bilateral central vision loss. More… read more here.

Keywords: ipsc; optic atrophy; opa1 variants; autosomal dominant ... See more keywords