Mutational analysis of the Portuguese cohort with clinical diagnosis of FH
INTRODUCTION : Familial hypercholesterolemia (FH) is a common autosomal dominant disorder of lipid metabolism (1:500 frequency), caused by mutations in genes involved in cholesterol’s clearance. FH patients present high levels of plasma cholesterol since birth, and if untreated, develop premature co...
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| Outros Autores: | , |
| Formato: | conferenceObject |
| Idioma: | eng |
| Publicado em: |
2014
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| Texto completo: | http://hdl.handle.net/10400.18/2473 |
| País: | Portugal |
| Oai: | oai:repositorio.insa.pt:10400.18/2473 |