In silico versus in vitro analysis of LDLR mutations

Alves, A.C.; Silva, S.; Patel, D.; Malhó, R.; Soutar, A.K.; Bourbon, M.

http://hdl.handle.net/10400.18/897

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IN SILICO VERSUS IN VITRO ANALYSIS OF LDLR MUTATIONS.pdf		1.26 MB	Adobe PDF	Ver/Abrir

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Resumo(s)

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.

Palavras-chave

Doenças Cardio e Cérebro-vasculares

URI

http://hdl.handle.net/10400.18/897

Editora

Instituto Nacional de Saúde Doutor Ricardo Jorge, IP

Coleções

DPSPDNT - Posters/abstracts em congressos internacionais

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