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High-Throughput Microscopy Characterization of Rare LDLR Variants

Familial hypercholesterolemia (FH) is the most common inherited life-threatening disorder of lipid metabolism. Early diagnosis and treatment are the key to reduce the cumulative life-long cardiovascular burden of patients with FH. The high number of LDLR variants described as variants of unknown sig...

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Detalles Bibliográficos
Autores principales:	Graça, Rafael, Zimon, Magdalena, Alves, Ana C., Pepperkok, Rainer, Bourbon, Mafalda
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2023
Materias:	Original Research - Novel Translational Methods
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10504398/ https://www.ncbi.nlm.nih.gov/pubmed/37719435 http://dx.doi.org/10.1016/j.jacbts.2023.03.013

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