Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz syndrome (SLOS) is a cholesterol synthesis disorder characterized by physical, mental, and behavioral symptoms. It is caused by mutations in 7-dehydroxycholesterolreductase gene (DHCR7) encoding DHCR7 protein, which is the rate-limiting enzyme in the cholesterol synthesis pathway....

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Detalles Bibliográficos
Autores principales: Peng, Yunhui, Myers, Rebecca, Zhang, Wenxing, Alexov, Emil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796090/
https://www.ncbi.nlm.nih.gov/pubmed/29300326
http://dx.doi.org/10.3390/ijms19010141

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796090/
https://www.ncbi.nlm.nih.gov/pubmed/29300326
http://dx.doi.org/10.3390/ijms19010141

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