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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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Detalles Bibliográficos
Autores principales:	Fliesler, Steven J., Peachey, Neal S., Herron, Josi, Hines, Kelly M., Weinstock, Nadav I., Ramachandra Rao, Sriganesh, Xu, Libin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5775248/ https://www.ncbi.nlm.nih.gov/pubmed/29352199 http://dx.doi.org/10.1038/s41598-018-19592-8

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