Articles with "pro50leu substitution" as a keyword



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Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy

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Published in 2019 at "JAMA Ophthalmology"

DOI: 10.1001/jamaophthalmol.2019.4959

Abstract: Key Points Question Is there evidence that the Pro50Leu substitution in guanylate cyclase activating protein-1 (encoded by the gene GUCA1A) is associated with a dominant retinal dystrophy? Findings In this cross-sectional study reevaluating the original… read more here.

Keywords: retinal dystrophy; pro50leu substitution; dominant retinal; substitution guanylate ... See more keywords