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
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
Next-generation genetic testing for retinitis pigmentosa.
Neveling K et al.
Human Mutation, 2012
22334370 (PubMed )
Supplement: humu0033-0963-sd1.pdf
Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.
Ajmal M et al.
Molecular Vision, 2012
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