Articles with "patient oguchi" as a keyword



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A compound heterozygous mutation in the S-Antigen Visual Arrestin SAG gene in a Chinese patient with Oguchi type one: a case report

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Published in 2022 at "BMC Ophthalmology"

DOI: 10.1186/s12886-022-02307-z

Abstract: Background Oguchi disease is a rare autosomal recessive form of congenital quiescent night blindness. Oguchi disease has been found to be associated with gene mutations in SAG and GRK1 , which are vital factors in… read more here.

Keywords: patient oguchi; oguchi disease; mutation; gene ... See more keywords