Articles with "dysfunction cgmp" as a keyword



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Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1

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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… read more here.

Keywords: gcap1; ca2; macular dystrophy; dysfunction cgmp ... See more keywords