Exploring the complete mutational space of the LDL receptor LA5 domain using molecular dynamics: linking SNPs with disease phenotypes in familial hypercholesterolemia

Familial hypercholesterolemia (FH), a genetic disorder with a prevalence of 0.2%, represents a high-risk factor to develop cardiovascular and cerebrovascular diseases. The majority and most severe FH cases are associated to mutations in the receptor for low-density lipoproteins receptor (LDL-r), but...

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Detalles Bibliográficos
Autores principales: Angarica, Vladimir Espinosa, Orozco, Modesto, Sancho, Javier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Association Studies Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4764198/
https://www.ncbi.nlm.nih.gov/pubmed/26755827
http://dx.doi.org/10.1093/hmg/ddw004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4764198/
https://www.ncbi.nlm.nih.gov/pubmed/26755827
http://dx.doi.org/10.1093/hmg/ddw004

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