Articles with "homozygote mutation" as a keyword



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A Homozygote Mutation in S-Antigen Visual Arrestin SAG Gene in an Iranian Patient with Oguchi Type One: A Case Report

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Published in 2020 at "Iranian Journal of Public Health"

DOI: 10.18502/ijph.v49i5.3219

Abstract: Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness (CSNB) characterized by specific features such as golden-brown discoloration of the fundus called Mizuo-Nakamura phenomenon which is distinguishable by fundoscopy, and retinography.… read more here.

Keywords: sag gene; oguchi disease; homozygote mutation; antigen visual ... See more keywords