Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/1075
Título: In vitro functional characterization of missense mutations in the LDLR gene
Autor: Silva, S.
Alves, A.C.
Patel, D.
Malhó, R.
Soutar, A.K.
Bourbon, M.
Palavras-chave: Familial Hypercholesterolaemia
Stably Transfection of CHO-ldlA7 Cells
Impaired Receptor Function
Functional Studies
Predicted Analysis
Doenças Cardio e Cérebro-vasculares
Data: 10-Ago-2012
Editora: Elsevier
Citação: Atherosclerosis. 2012 Nov;225(1):128-34. Epub 2012 Aug 20.
Resumo: 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
Versão do Editor: http://www.sciencedirect.com/science/article/pii/S0021915012005667
Aparece nas colecções:DPSPDNT - Artigos em revistas internacionais



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