ASIER
BENITO VICENTE
PROFESORADO ADJUNTO
Instituto Nacional de Saúde Dr. Ricardo Jorge
Lisboa, PortugalPublicaciones en colaboración con investigadoras/es de Instituto Nacional de Saúde Dr. Ricardo Jorge (7)
2021
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LDLR variants functional characterization: Contribution to variant classification
Atherosclerosis, Vol. 329, pp. 14-21
2019
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Functional analysis of LDLR (low-density lipoprotein receptor) variants in patient lymphocytes to assess the effect of evinacumab in homozygous familial hypercholesterolemia patients with a spectrum of LDLR activity
Arteriosclerosis, Thrombosis, and Vascular Biology, Vol. 39, Núm. 11, pp. 2248-2260
2018
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Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia
Atherosclerosis, Vol. 277, pp. 448-456
2015
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Characterization of the First PCSK9 Gain of Function Homozygote
Journal of the American College of Cardiology
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Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity
Scientific Reports, Vol. 5
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The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia
Genetics in Medicine, Vol. 17, Núm. 12, pp. 980-988