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Published in 2017 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddw374
Abstract: Macular dystrophy leads to progressive loss of central vision and shows symptoms similar to age-related macular degeneration. Genetic screening of patients diagnosed with macular dystrophy disclosed a novel mutation in the GUCA1A gene, namely a…
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Keywords:
gcap1;
ca2;
macular dystrophy;
dysfunction cgmp ... See more keywords
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Published in 2022 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2022.988142
Abstract: Retinal membrane guanylate cyclases (RetGC1 and RetGC2) are expressed in photoreceptor rod and cone cells, where they promote the onset of visual recovery during phototransduction. The catalytic activity of RetGCs is regulated by their binding…
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Keywords:
membrane guanylate;
gcap1;
retinal membrane;
cyclase ... See more keywords