The impact of cascade screening in familial hypercholesterolemia diagnosis
Familial hypercholesterolemia (FH) is a genetic disorder of cholesterol metabolism caused by mutations in LDLR, APOB and PCSK9 genes. It’s characterized by an increase of total and LDL cholesterol levels leading to premature cardiovascular disease. According to the frequency of the disease in most E...
| Autor principal: | |
|---|---|
| Outros Autores: | , , , |
| Formato: | conferenceObject |
| Idioma: | eng |
| Publicado em: |
2012
|
| Assuntos: | |
| Texto completo: | http://hdl.handle.net/10400.18/906 |
| País: | Portugal |
| Oai: | oai:repositorio.insa.pt:10400.18/906 |