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Oxysterols and Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome: Implications for an Improved Therapeutic Intervention

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive human disease caused by mutations in the gene encoding 7-dehydrocholesterol (7DHC) reductase (DHCR7), resulting in abnormal accumulation of 7DHC and reduced levels of cholesterol in bodily tissues and fluids. A rat model of the disease has...

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Pubblicato in:Molecules
Autori principali: Fliesler, Steven J., Xu, Libin
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2018
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6222618/
https://ncbi.nlm.nih.gov/pubmed/30360379
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/molecules23102720
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