Fisiología
Departamento
Instituto Nacional de Saúde Dr. Ricardo Jorge
Lisboa, PortugalPublicaciones en colaboración con investigadoras/es de Instituto Nacional de Saúde Dr. Ricardo Jorge (6)
2018
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
2014
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Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment
PLoS ONE, Vol. 9, Núm. 11
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Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia
Human Molecular Genetics, Vol. 23, Núm. 7, pp. 1817-1828