An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations[S]

An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations[S]

The main causes of familial hypercholesterolemia (FH) are mutations in LDL receptor (LDLR) gene. Functional studies are necessary to demonstrate the LDLR function impairment caused by mutations and would be useful as a diagnostic tool if they allow discrimination between FH patients and controls. In...

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Bibliographic Details
Main Authors: Maria Romano, Maria Donata Di Taranto, Peppino Mirabelli, Maria Nicoletta D’Agostino, Arcangelo Iannuzzi, Gennaro Marotta, Marco Gentile, Maddalena Raia, Rosa Di Noto, Luigi Del Vecchio, Paolo Rubba, Giuliana Fortunato
Format: Article
Language:English
Published: Elsevier 2011-11-01
Series:Journal of Lipid Research
Subjects:
LDL receptor
familial hypercholesterolemia
EBV-transformed B-lymphocytes
mitogen stimulated T-lymphocytes
functional activity
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520350987

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http://www.sciencedirect.com/science/article/pii/S0022227520350987

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