Pathogenicity assessment of LDLR variants in patients with Familial Hypercholesterolemia
Mutations in LDLR gene are the major cause of Familial Hypercholesterolemia (FH) but there are several variants described whose pathogenicity is still unknown. To date 88 different mutations in LDLR have been identified in the Portuguese population most of them, although being present in other popul...
| Autor principal: | |
|---|---|
| Outros Autores: | , , , |
| Formato: | conferenceObject |
| Idioma: | eng |
| Publicado em: |
2013
|
| Assuntos: | |
| Texto completo: | http://hdl.handle.net/10400.18/1636 |
| País: | Portugal |
| Oai: | oai:repositorio.insa.pt:10400.18/1636 |