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A Rare Double Heterozygous Mutation in Low-Density Lipoprotein Receptor and Apolipoprotein B-100 Genes in a Severely Affected Familial Hypercholesterolaemia Patient

Familial hypercholesterolaemia (FH) is characterized by high plasma low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease risk. Mutations in the genes that encode proteins involved in LDL uptake and catabolism, including LDL-receptor (LDLR) and apolipoprotein-B (APO...

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Detalles Bibliográficos
Autores principales:	Juhász, Lilla, Balogh, István, Madar, László, Kovács, Beáta, Harangi, Mariann
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2020
Materias:	Cardiology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7814514/ https://www.ncbi.nlm.nih.gov/pubmed/33489595 http://dx.doi.org/10.7759/cureus.12184

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