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

Internet

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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