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A group of 200 patients with familial hypercholesterolemia (FH) who were attending lipid clinics in the London area have been screened for four known point mutations and a microdeletion in exon 4 of(More)
In a large kindred of 66 individuals, 22 were identified as heterozygous and 3 as homozygous for a mutation (pro664----leu) in the LDL-receptor gene that gives rise to familial hypercholesterolaemia(More)
We have determined the relative allele frequency and estimated linkage disequilibrium between six DNA polymorphisms of the low density lipoprotein (LDL) receptor gene. Polymorphisms were detected(More)