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...
| Main Author: | |
|---|---|
| Other Authors: | , |
| Format: | conferenceObject |
| Language: | eng |
| Published: |
2014
|
| Subjects: | |
| Online Access: | http://hdl.handle.net/10400.18/2473 |
| Country: | Portugal |
| Oai: | oai:repositorio.insa.pt:10400.18/2473 |