Mutational analysis of the Portuguese cohort with clinical diagnosis of FH

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dc.contributor.author	Medeiros, A.M.
dc.contributor.author	Alves, A.C
dc.contributor.author	Bourbon, M.
dc.date.accessioned	2014-11-26T17:55:04Z
dc.date.available	2014-11-26T17:55:04Z
dc.date.issued	2014-11
dc.description.abstract	INTRODUCTION : Familial hypercholesterolemia (FH) is a common autosomal dominant disorder of lipid metabolism (1:500 frequency), caused by mutations in genes involved in cholesterol’s clearance. FH patients present high levels of plasma cholesterol since birth, and if untreated, develop premature coronary heart disease (pCHD). The aim of the Portuguese FH Study is to promote the early identification and characterization of FH patients in order to decrease their cardiovascular risk by the implementation of correct/adequate and early counselling/treatment.	por
dc.identifier.uri	http://hdl.handle.net/10400.18/2473
dc.language.iso	eng	por
dc.publisher	Instituto Nacional de Saúde Doutor Ricardo Jorge, IP	por
dc.subject	Doenças Cardio e Cérebro-vasculares	por
dc.subject	Familial Hypercholesterolemia	por
dc.subject	Saúde Pública	por
dc.subject	Portugal	por
dc.title	Mutational analysis of the Portuguese cohort with clinical diagnosis of FH	por
dc.type	conference object
dspace.entity.type	Publication
oaire.citation.conferencePlace	Lisboa, Portugal	por
oaire.citation.title	18ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 19-21 Novembro 2014	por
rcaap.rights	embargoedAccess	por
rcaap.type	conferenceObject	por

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