Title : Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature.

Pub. Date : 2012 Aug

PMID : 22669287






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 The proband had a compound heterozygotic missense mutation of Cys59Ser (TGC AGC) and a nonsense mutation of Trp95ter (TGG TGA) in the RDH5 gene. trp95ter retinol dehydrogenase 5 Homo sapiens