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Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome (SLOS) is a recessive human disease caused by defective cholesterol (CHOL) synthesis at the level of DHCR7 (7-dehydrocholesterol reductase), which normally catalyzes the conversion of 7-dehydrocholesterol (7DHC) to CHOL. Formation and abnormal accumulation of 7DHC and 7DHC...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Sci Rep
Prif Awduron: Fliesler, Steven J., Peachey, Neal S., Herron, Josi, Hines, Kelly M., Weinstock, Nadav I., Ramachandra Rao, Sriganesh, Xu, Libin
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group UK 2018
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5775248/
https://ncbi.nlm.nih.gov/pubmed/29352199
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-19592-8
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