In vitro functional characterization of missense mutations in the LDLR gene

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...

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Bibliographic Details
Main Author: Silva, S. (author)
Other Authors: Alves, A.C. (author), Patel, D. (author), Malhó, R. (author), Soutar, A.K. (author), Bourbon, M. (author)
Format: article
Language:eng
Published: 2012
Subjects:
Familial Hypercholesterolaemia
Stably Transfection of CHO-ldlA7 Cells
Impaired Receptor Function
Functional Studies
Predicted Analysis
Doenças Cardio e Cérebro-vasculares
Online Access:http://hdl.handle.net/10400.18/1075
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/1075
Description
Summary: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.

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