Functional characterization of LDL receptor gene variants found in patients with clinical diagnosis of familial hypercholesterolaemia
Aim: Familial Hypercholesterolaemia (FH) is an autosomal disorder of lipid metabolism presenting increased cardiovascular risk due to lifelong exposure to high LDL levels. LDLR mutations are the cause of disease in about 90% of the cases, but proof of pathogenicity has only been obtained for about 1...
| Autor principal: | |
|---|---|
| Outros Autores: | , , , , , , |
| Formato: | conferenceObject |
| Idioma: | eng |
| Publicado em: |
2020
|
| Assuntos: | |
| Texto completo: | http://hdl.handle.net/10400.18/6659 |
| País: | Portugal |
| Oai: | oai:repositorio.insa.pt:10400.18/6659 |