Replacement of cysteine at position 46 in the first cysteine-rich repeat of the LDL receptor impairs apolipoprotein recognition

BACKGROUND AND AIMS: Pathogenic mutations in the Low Density Lipoprotein Receptor gene (LDLR) cause Familial Hypercholesterolemia (FH), one of the most common genetic disorders with a prevalence as high as 1 in 200 in some populations. FH is an autosomal dominant disorder of lipoprotein metabolism c...

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Detalles Bibliográficos
Autores principales: Benito-Vicente, A., Uribe, K. B., Siddiqi, H., Jebari, S., Galicia-Garcia, U., Larrea-Sebal, A., Cenarro, A., Stef, M., Ostolaza, H., Civeira, F., Palacios, L., Martin, C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6192581/
https://www.ncbi.nlm.nih.gov/pubmed/30332439
http://dx.doi.org/10.1371/journal.pone.0204771

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