Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR

The primary genetic cause of familial hypercholesterolemia (FH) is related to mutations in the LDLR gene encoding the Low-density Lipoprotein Receptor. LDLR structure is organized in 5 different domains, including an EGF-precursor homology domain that plays a pivotal role in lipoprotein release and...

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Detalles Bibliográficos
Autores principales: Galicia-Garcia, Unai, Benito-Vicente, Asier, Uribe, Kepa B., Jebari, Shifa, Larrea-Sebal, Asier, Alonso-Estrada, Rocio, Aguilo-Arce, Joseba, Ostolaza, Helena, Palacios, Lourdes, Martin, Cesar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6997160/
https://www.ncbi.nlm.nih.gov/pubmed/32015373
http://dx.doi.org/10.1038/s41598-020-58734-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6997160/
https://www.ncbi.nlm.nih.gov/pubmed/32015373
http://dx.doi.org/10.1038/s41598-020-58734-9

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