Functionally characterization of the most common LDLR missense alterations found in Portuguese FH patients

Mutations in the LDLR gene are the major cause of familial hypercholesterolaemia (FH), which results in defective catabolism of LDL leading to premature coronary heart disease. Presently, more than 1700 different mutations in the LDLR gene have been described as causing FH but the majority of them r...

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Bibliographic Details
Main Author: Alves, A.C. (author)
Other Authors: Azevedo, S. (author), Benito-Vicente, A. (author), Etxebarria, A. (author), Barros, P. (author), Medeiros, A.M. (author), Martín, C. (author), Bourbon, Mafalda (author)
Format: conferenceObject
Language:eng
Published: 2018
Subjects:
Familial Hypercholesterolaemia
Doenças Cardio e Cérebro-vasculares
Genómica Funcional e Estrutural
Portugal
Online Access:http://hdl.handle.net/10400.18/5172
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/5172

Internet

http://hdl.handle.net/10400.18/5172

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