Influence of different type of mutations in the biochemical profile of Portuguese patients with familial hypercholesterolemia

Familial Hypercholesterolemia (FH) is characterized by high levels of LDLc in plasma, accelerated atherosclerosis and increased risk of premature coronary heart disease. FH results from mutations in three genes involved in lipid metabolism: LDLR, APOB, PCSK9. It is known that FH patients’ phenotype...

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Detalhes bibliográficos
Autor principal: Medeiros, A.M. (author)
Outros Autores: Alves, A.C. (author), Bourbon, M. (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2012
Assuntos:
Texto completo:http://hdl.handle.net/10400.18/393
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/393