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Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome: Thinking Beyond Cholesterol Deficiency

Smith-Lemli-Opitz Syndrome (SLOS) is a recessive hereditary disease caused by a defect in the last step in cholesterol biosynthesis— the reduction of the Δ7 double bond of 7-dehydrocholesterol (7DHC)— resulting in the abnormal accumulation of 7DHC and diminished levels of Chol in all bodily tissues....

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Detalhes bibliográficos
Autor principal: Fliesler, Steven J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3071641/
https://ncbi.nlm.nih.gov/pubmed/20238050
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/978-1-4419-1399-9_55
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