Genetic status of the Portuguese FH Study: Variant description and Next Generation Sequencing panel

Introduction: Familial Hypercholesterolemia (FH) is a common autosomal genetic disorder (1/250-1/500 worldwide); FH patients have high levels of cholesterol since birth with a family history of hypercholesterolemia and premature cardiovascular disease; Genetic diagnosis results from the study of 3 g...

ver descrição completa

Detalhes bibliográficos
Autor principal: Medeiros, A.M. (author)
Outros Autores: Alves, A.C. (author), Bourbon, M. (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2021
Assuntos:
Portuguese FH Study
Familial Hypercholesterolemia
Portugal
Doenças Cardio e Cérebro-vasculares
Texto completo:http://hdl.handle.net/10400.18/7717
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/7717

Texto Completo

http://hdl.handle.net/10400.18/7717

Registos relacionados