Genetic Diagnosis of Familial Hypercholesterolaemia: The Importance of an Integrated Analysis of Clinical, Molecular and Functional Data

Familial Hypercholesterolaemia (FH) is one of the most common monogenic disorders, being caused mostly by mutations in LDL receptor (LDLR) gene. The high levels of LDL cholesterol presented since birth confers these patients an increased cardiovascular risk. Laboratory techniques have improved great...

ver descrição completa

Detalhes bibliográficos
Autor principal: Alves, A.C. (author)
Outros Autores: Benito-Vicente, A. (author), Etxebarria, A. (author), Medeiros, A.M. (author), Martin, C. (author), Bourbon, Mafalda (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2016
Assuntos:
Doenças Cardio e Cérebro-vasculares
Familial Hypercholesterolaemia
Texto completo:http://hdl.handle.net/10400.18/3371
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/3371

Texto Completo

http://hdl.handle.net/10400.18/3371

Registos relacionados