Reduced cholesterol levels impair Smoothened activation in Smith–Lemli–Opitz syndrome

Smith–Lemli–Opitz syndrome (SLOS) is a common autosomal-recessive disorder that results from mutations in the gene encoding the cholesterol biosynthetic enzyme 7-dehydrocholesterol reductase (DHCR7). Impaired DHCR7 function is associated with a spectrum of congenital malformations, intellectual impa...

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Detalles Bibliográficos
Autores principales: Blassberg, Robert, Macrae, James I., Briscoe, James, Jacob, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743690/
https://www.ncbi.nlm.nih.gov/pubmed/26685159
http://dx.doi.org/10.1093/hmg/ddv507

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743690/
https://www.ncbi.nlm.nih.gov/pubmed/26685159
http://dx.doi.org/10.1093/hmg/ddv507

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