Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis

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dc.contributor.author	Chora, J.R.
dc.contributor.author	Medeiros, A.M.
dc.contributor.author	Alves, A.C.
dc.contributor.author	Bourbon, M.
dc.date.accessioned	2019-06-19T10:32:50Z
dc.date.available	2019-06-19T10:32:50Z
dc.date.issued	2019-02
dc.description.abstract	Familial Hypercholesterolemia (FH): Lipid metabolism autosomal dominant condition; Patients present elevated low-density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) values since birth - elevated cardiovascular risk.	pt_PT
dc.description.sponsorship	FCT: SFRH/BD/108503/2015	pt_PT
dc.description.version	N/A	pt_PT
dc.identifier.uri	http://hdl.handle.net/10400.18/6421
dc.language.iso	eng	pt_PT
dc.publisher	Instituto Nacional de Saúde Doutor Ricardo Jorge, IP	pt_PT
dc.subject	Familial Hypercholesterolemia	pt_PT
dc.subject	Genetic Diagnosis	pt_PT
dc.subject	Doenças Cardio e Cérebro-vasculares	pt_PT
dc.subject	Hipercolesterolemia Familia	pt_PT
dc.title	Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis	pt_PT
dc.type	conference object
dspace.entity.type	Publication
oaire.citation.conferencePlace	Óbidos, Portugal	pt_PT
oaire.citation.title	IX Congresso Novas Fronteiras em Medicina Cardiovascular, 22-24 fevereiro 2019	pt_PT
rcaap.rights	embargoedAccess	pt_PT
rcaap.type	conferenceObject	pt_PT

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