Publicacions en què col·labora amb Lourdes Palacios Martin (9)

2022

  1. Leu22_Leu23 Duplication at the Signal Peptide of PCSK9 Promotes Intracellular Degradation of LDLr and Autosomal Dominant Hypercholesterolemia

    Arteriosclerosis, Thrombosis, and Vascular Biology, Vol. 42, Núm. 7, pp. E203-E216

2021

  1. Diagnostic yield of sequencing familial hypercholesterolemia genes in individuals with primary hypercholesterolemia

    Revista Espanola de Cardiologia, Vol. 74, Núm. 8, pp. 664-673

2020

  1. Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR

    Scientific reports, Vol. 10, Núm. 1, pp. 1727

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

  2. p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro

    Scientific Reports, Vol. 8, Núm. 1

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. Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats

    Atherosclerosis, Vol. 238, Núm. 2, pp. 304-312

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

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

2012

  1. Functional characterization of splicing and ligand-binding domain variants in the LDL receptor

    Human Mutation, Vol. 33, Núm. 1, pp. 232-243