Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants

Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by high blood-cholesterol levels mostly caused by mutations in the low-density lipoprotein receptor (LDLr). With a prevalence as high as 1/200 in some populations, genetic screening for pathogenic LDLr mutations is a...

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Detalles Bibliográficos
Autores principales: Benito-Vicente, Asier, Uribe, Kepa B., Jebari, Shifa, Galicia-Garcia, Unai, Ostolaza, Helena, Martin, Cesar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032215/
https://www.ncbi.nlm.nih.gov/pubmed/29874871
http://dx.doi.org/10.3390/ijms19061676

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032215/
https://www.ncbi.nlm.nih.gov/pubmed/29874871
http://dx.doi.org/10.3390/ijms19061676

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