Characterization of Two Variants at Met 1 of the Human LDLR Gene Encoding the Same Amino Acid but Causing Different Functional Phenotypes

Familial hypercholesterolemia (FH) is the most common genetic disorder of lipid metabolism, characterized by increased levels of total and LDL plasma cholesterol, which leads to premature atherosclerosis and coronary heart disease. FH phenotype has considerable genetic heterogeneity and phenotypic v...

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Detalles Bibliográficos
Autores principales: Graça, Rafael, Fernandes, Rafael, Alves, Ana Catarina, Menezes, Juliane, Romão, Luísa, Bourbon, Mafalda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8467959/
https://www.ncbi.nlm.nih.gov/pubmed/34572405
http://dx.doi.org/10.3390/biomedicines9091219

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8467959/
https://www.ncbi.nlm.nih.gov/pubmed/34572405
http://dx.doi.org/10.3390/biomedicines9091219

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