Mutations in RPE65 cause Leber's congenital amaurosis.

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Marlhens F, Bareil C, Griffoin JM, Zrenner E, Amalric P, Eliaou C, Liu SY, Harris E, Redmond TM, Arnaud B, Claustres M, Hamel CP

Mutations in RPE65 cause Leber's congenital amaurosis.

Nat Genet. 1997 Oct;17(2):139-41. doi: 10.1038/ng1097-139.

PubMed ID
9326927 [ View in PubMed
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DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Retinoid isomerohydrolaseQ16518Details