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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