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Please use this identifier to cite or link to this item: http://hdl.handle.net/10400.18/1075

Title: In vitro functional characterization of missense mutations in the LDLR gene
Authors: Silva, S.
Alves, A.C.
Patel, D.
Malhó, R.
Soutar, A.K.
Bourbon, M.
Keywords: Familial Hypercholesterolaemia
Stably Transfection of CHO-ldlA7 Cells
Impaired Receptor Function
Functional Studies
Predicted Analysis
Doenças Cardio e Cérebro-vasculares
Issue Date: 10-Aug-2012
Publisher: Elsevier
Citation: Atherosclerosis. 2012 Nov;225(1):128-34. Epub 2012 Aug 20.
Abstract: Mutations in the LDL receptor gene are the major cause of familial hypercholesterolaemia (FH) but it has been previously shown that the simple finding of a variation in the coding sequence of the LDLR does not confirm that it is the actual cause of FH. The pathogenicity of five missense alterations in the LDLR gene coding sequence found in a previous epidemiologic study was investigated.
URI: http://hdl.handle.net/10400.18/1075
ISSN: 0021-9150
Publisher version: http://www.sciencedirect.com/science/article/pii/S0021915012005667
Appears in Collections:DPSPDNT - Artigos em revistas internacionais

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