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Molecular modeling of LDLR aids interpretation of genomic variants

ABSTRACT: Genetic variants in low-density lipoprotein receptor (LDLR) are known to cause familial hypercholesterolemia (FH), occurring in up to 1 in 200 people (Youngblom E. et al. 1993 and Nordestgaard BG et al. 34:3478–3490a, 2013) and leading to significant risk for heart disease. Clinical genomi...

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Detalles Bibliográficos
Autores principales:	Klee, Eric W., Zimmermann, Michael T.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2019
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440939/ https://www.ncbi.nlm.nih.gov/pubmed/30778614 http://dx.doi.org/10.1007/s00109-019-01755-3

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