The molecular basis and diagnosis of familial hypercholesterolaemia in South African Afrikaners

The Metabolic Basis of Inherited Disease.

1983 • 2,885 citations

Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners.

1989 • 204 citations

Familial Hypercholesterolemia (One Form of Familial Type II Hyperlipoproteinemia) A STUDY OF ITS BIOCHEMICAL, GENETIC, AND CLINICAL PRESENTATION IN CHILDHOOD

1974 • 189 citations

Polymorphic DNA haplotypes at the LDL receptor locus.

1989 • 125 citations

Diagnosing familial hypercholesterolaemia in childhood by measuring serum cholesterol.

1977 • 63 citations

The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia.

1989 • 48 citations

Haplotypes identified by 10 DNA restriction fragment length polymorphisms at the human low density lipoprotein receptor gene locus.

1989 • 30 citations

Haplotype associations of three DNA polymorphisms at the human low density lipoprotein receptor gene locus in familial hypercholesterolaemia.

1987 • 27 citations

Association between familial hypercholesterolaemia and church affiliation. Is this the result of sociocultural isolation of migrant farmers in 19th-century South Africa?

1984 • 15 citations

An exon 4 mutation identified in the majority of South African familial hypercholesterolaemics.

1990 • 14 citations

A molecular-genetic analysis of familial hypercholesterolaemia

1990 • 1 citations