p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro

Familial Hypercholesterolemia (FH) is a common genetic disorder caused most often by mutations in the Low Density Lipoprotein Receptor gene (LDLr) leading to high blood cholesterol levels, and ultimately to development of premature coronary heart disease. Genetic analysis and subsequent cascade scre...

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Detalles Bibliográficos
Autores principales: Benito-Vicente, A., Siddiqi, H., Uribe, K. B., Jebari, S., Galicia-Garcia, U., Larrea-Sebal, A., Stef, M., Ostolaza, H., Palacios, L., Martin, C.
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/PMC6226515/
https://www.ncbi.nlm.nih.gov/pubmed/30413722
http://dx.doi.org/10.1038/s41598-018-34715-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6226515/
https://www.ncbi.nlm.nih.gov/pubmed/30413722
http://dx.doi.org/10.1038/s41598-018-34715-x

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