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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Detalhes bibliográficos
Autor principal: Alves, A.C. (author)
Outros Autores: Azevedo, S. (author), Benito-Vicente, A. (author), Etxebarria, A. (author), Barros, P. (author), Medeiros, A.M. (author), Martín, C. (author), Bourbon, Mafalda (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2018
Assuntos:
Familial Hypercholesterolaemia
Doenças Cardio e Cérebro-vasculares
Genómica Funcional e Estrutural
Portugal
Texto completo:http://hdl.handle.net/10400.18/5172
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/5172

Texto Completo

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

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