Publicaciones en las que colabora con Fernando Civeira Murillo (4)

2021

  1. MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants

    JACC: Basic to Translational Science, Vol. 6, Núm. 11, pp. 815-827

2018

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

    PLoS ONE, Vol. 13, Núm. 10

2016

  1. The p.Leu167del mutation in APOE gene causes autosomal dominant hypercholesterolemia by down-regulation of LDL receptor expression in hepatocytes

    Journal of Clinical Endocrinology and Metabolism, Vol. 101, Núm. 5, pp. 2113-2121

2015

  1. Functional characterization and classification of frequent low-density lipoprotein receptor variants

    Human Mutation, Vol. 36, Núm. 1, pp. 129-141