Bioquímica y Biología Molecular
Fachbereich
Complejo Hospitalario Universitario Insular - Materno Infantil de Canarias
Las Palmas de Gran Canaria, EspañaPublikationen in Zusammenarbeit mit Forschern von Complejo Hospitalario Universitario Insular - Materno Infantil de Canarias (9)
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
2018
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LRRK2 expression is deregulated in fibroblasts and neurons from parkinson patients with mutations in PINK1
Molecular Neurobiology, Vol. 55, Núm. 1, pp. 506-516
2012
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Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus
Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6
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Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain
Clinical Endocrinology, Vol. 76, Núm. 5, pp. 719-724
2010
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New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism
European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962