IBF Instituto Biofisika
Ikastegia
Complejo Hospitalario Universitario Insular - Materno Infantil de Canarias
Las Palmas de Gran Canaria, EspañaComplejo Hospitalario Universitario Insular - Materno Infantil de Canarias-ko ikertzaileekin lankidetzan egindako argitalpenak (4)
2023
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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
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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
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Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia
Atherosclerosis, Vol. 292, pp. 143-151
2019
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The Arg499His gain-of-function mutation in the C-terminal domain of PCSK9
Atherosclerosis, Vol. 289, pp. 162-172