Please use this identifier to cite or link to this item: http://hdl.handle.net/10400.18/897
Title: In silico versus in vitro analysis of LDLR mutations
Authors: Alves, A.C.
Silva, S.
Patel, D.
Malhó, R.
Soutar, A.K.
Bourbon, M.
Keywords: Doenças Cardio e Cérebro-vasculares
Issue Date: May-2012
Publisher: Instituto Nacional de Saúde Doutor Ricardo Jorge, IP
Abstract: The LDL receptor (LDLR) is a glycoprotein that mediates binding and internalization of cholesterol-rich lipoproteins from plasma. Mutations in the LDLR gene are the major cause of familial hypercholesterolaemia (FH), which results in impaired catabolism of circulating LDL. This common autosomal inherited metabolism disorder leads to premature atherosclerosis and increased risk of CHD. Many different mutations (currently more than 1300) have been identified in FH patients, but not all give rise to a defective LDLR.
URI: http://hdl.handle.net/10400.18/897
Appears in Collections:DPSPDNT - Posters/abstracts em congressos internacionais

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