Common low-density lipoprotein receptor mutations in the French Canadian population.

Molecular Cloning. A Laboratory Manual

1983 • 27,328 citations

[57] Sequencing end-labeled DNA with base-specific chemical cleavages

1980 • 15,302 citations

A Receptor-Mediated Pathway for Cholesterol Homeostasis

1986 • 5,638 citations

Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

1986 • 1,863 citations

Receptor-Mediated Endocytosis: Concepts Emerging from the LDL Receptor System

1985 • 1,585 citations

The human LDL receptor: A cysteine-rich protein with multiple Alu sequences in its mRNA

1984 • 1,386 citations

The CpG dinucleotide and human genetic disease

1988 • 946 citations

Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster

1982 • 937 citations

The LDL Receptor Gene: A Mosaic of Exons Shared with Different Proteins

1985 • 845 citations

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1984 • 586 citations

The J. D. mutation in familial hypercholesterolemia: Amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors

1986 • 372 citations

Monoclonal antibodies to the low density lipoprotein receptor as probes for study of receptor-mediated endocytosis and the genetics of familial hypercholesterolemia.

1981 • 359 citations

Deletion in Cysteine-Rich Region of LDL Receptor Impedes Transport to Cell Surface in WHHL Rabbit

1986 • 335 citations

Transport of secretory and membrane glycoproteins from the rough endoplasmic reticulum to the Golgi. A rate-limiting step in protein maturation and secretion.

1988 • 327 citations

Deletion in the Gene for the Low-Density-Lipoprotein Receptor in a Majority of French Canadians with Familial Hypercholesterolemia

1987 • 300 citations

The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum.

1987 • 282 citations

Mutational analysis of the ligand binding domain of the low density lipoprotein receptor.

1988 • 281 citations

The LDL receptor locus in familial hypercholesterolemia: Multiple mutations disrupt transport and processing of a membrane receptor

1983 • 261 citations

Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both.

1984 • 221 citations

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

1989 • 204 citations

Experiences with the Homozygous Cases of Familial Hypercholesterolemia

1973 • 179 citations

Protein sorting by selective retention in the endoplasmic reticulum and Golgi stack

1987 • 179 citations

Homozygous familial hypercholesterolemia among French Canadians in Québec Province.

1989 • 171 citations

A host of hypercholesterolaemic homozygotes in South Africa.

1980 • 154 citations

Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors.

1989 • 141 citations

Polymorphic DNA haplotypes at the LDL receptor locus.

1989 • 125 citations

First cysteine-rich repeat in ligand-binding domain of low density lipoprotein receptor binds Ca2+ and monoclonal antibodies, but not lipoproteins.

1987 • 115 citations

On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups.

1986 • 98 citations

Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.

1989 • 84 citations

Immunocytochemical localization of mutant low density lipoprotein receptors that fail to reach the Golgi complex.

1988 • 81 citations

Molecular basis of familial hypercholesterolemia.

1989 • 78 citations

Identification of a second “French Canadian” LDL receptor gene deletion and development of a rapid method to detect both deletions

1989 • 75 citations

Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions.

1988 • 73 citations

Concentrated, digestible DNA after hydroxylapatite chromatography with cetylpyridinium bromide precipitation

1983 • 70 citations

Transport-deficient mutations in the low density lipoprotein receptor. Alterations in the cysteine-rich and cysteine-poor regions of the protein block intracellular transport.

1988 • 69 citations

Multiple origins of the sickle mutation: evidence from beta S globin gene cluster polymorphisms.

1983 • 58 citations

Familial Hypercholesterolemia

1982 • 58 citations

Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia.

1988 • 45 citations