Articles with "novel grk1" as a keyword



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A novel GRK1 mutation in an Italian patient with Oguchi disease

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Published in 2018 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2017.1323341

Abstract: Oguchi disease is a rare autosomal recessive, non-progressive retinal disorder, first described in the Japanese population. It refers to cases of congenital stationary night blindness (CSNB) in which patients have a characteristic golden-yellow fundus reflex… read more here.

Keywords: grk1 mutation; disease; oguchi disease; novel grk1 ... See more keywords