Associated Papers
A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.
Occelli LM et al.
Human Molecular Genetics, 2022
A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds.
Khan R et al.
Ophthalmic Genetics, 2020
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).
Skorczyk-Werner A et al.
Journal of Applied Genetics, 2015
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C et al.
Progress in Retinal and Eye Research, 2015
Cone abnormalities in fundus albipunctatus associated with RDH5 mutations assessed using adaptive optics scanning laser ophthalmoscopy.
Makiyama Y et al.
American Journal of Ophthalmology, 2014
Exome sequencing identifies early gastric carcinoma as an early stage of advanced gastric cancer.
Kang G et al.
Plos One, 2013
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