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retinal dystrophy, early-onset
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Retinol metabolism
Homo sapiens (human)
one gene
Cancer Gene Census
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Definition
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ABCA4
A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21
The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)
Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
LRAT
Molecular and biochemical characterization of lecithin retinol acyltransferase
OTX2
Cis-acting elements conserved between mouse and pufferfish Otx2 genes govern the expression in mesencephalic neural crest cells
Brain development is a multi-level regulated process--the case of the OTX2 gene
Otx2 gene deletion in adult mouse retina induces rapid RPE dystrophy and slow photoreceptor degeneration
Clinical Trials
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External
Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene