Publicaciones en colaboración con investigadores/as de Complejo Hospitalario Universitario Insular - Materno Infantil de Canarias (4)

2023

  1. Age, Origin and Functional Study of the Prevalent LDLR Mutation Causing Familial Hypercholesterolaemia in Gran Canaria

    International Journal of Molecular Sciences, Vol. 24, Núm. 14

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. Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia

    Atherosclerosis, Vol. 292, pp. 143-151

2019

  1. The Arg499His gain-of-function mutation in the C-terminal domain of PCSK9

    Atherosclerosis, Vol. 289, pp. 162-172