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

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 ch...

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Main Authors: A Benito-Vicente, K B Uribe, H Siddiqi, S Jebari, U Galicia-Garcia, A Larrea-Sebal, A Cenarro, M Stef, H Ostolaza, F Civeira, L Palacios, C Martin
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2018-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC6192581?pdf=render

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