Genotype/phenotype correlations in familial hypercholesterolaemia.
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.
Nicholls
P
P
Department of Medicine, Royal Victoria Hospital, Belfast, UK.
Young
I S
IS
Graham
C A
CA
D001055:Apolipoproteins B / Q000235:genetics; D005838:Genotype; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
D001055:Apolipoproteins B