Publicaciones en las que colabora con Lourdes Palacios Martin (5)

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

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

2012

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

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