title: Genotype/phenotype correlations in familial hypercholesterolaemia.
abstract: It is now possible to identify the specific gene defect in the majority of patients with familial hypercholesterolaemia. A potential benefit of this knowledge, in addition to helping with family screens, is to be able to predict the future clinical course. In order to do this, detailed genotype/phenotype correlation studies are required.
authors.affiliation: Department of Medicine, Royal Victoria Hospital, Belfast, UK.
authors.forename: P
authors.initials: P
authors.lastname: Nicholls
authors.forename: I S
authors.initials: IS
authors.lastname: Young
authors.forename: C A
authors.initials: CA
authors.lastname: Graham
mesh_terms: D001055:Apolipoproteins B / Q000235:genetics; D005838:Genotype; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
chemical_list: D001055:Apolipoproteins B