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

PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENT

1951 • 319,299 citations

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Molecular Cloning. A Laboratory Manual

1983 • 27,328 citations

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

1980 • 15,302 citations

Genomic sequencing.

1984 • 8,343 citations

A Receptor-Mediated Pathway for Cholesterol Homeostasis

1986 • 5,638 citations

The Metabolic Basis of Inherited Disease.

1983 • 2,885 citations

[19] Receptor-mediated endocytosis of low-density lipoprotein in cultured cells

1983 • 1,639 citations

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

1984 • 1,386 citations

Expression of wild-type and mutant forms of influenza hemagglutinin: The role of folding in intracellular transport

1986 • 879 citations

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

1985 • 845 citations

Complete nucleotide sequences of the gene for human factor IX (antihemophilic factor B)

1985 • 683 citations

Mutation in LDL Receptor: Alu-Alu Recombination Deletes Exons Encoding Transmembrane and Cytoplasmic Domains

1985 • 453 citations

Messenger RNA for myosin polypeptides: Isolation from single myogenic cell cultures

1977 • 417 citations

Purification of the low density lipoprotein receptor, an acidic glycoprotein of 164,000 molecular weight.

1982 • 378 citations

Domain map of the LDL receptor: Sequence homology with the epidermal growth factor precursor

1984 • 377 citations

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

1986 • 372 citations

Biosynthesis of N- and O-linked oligosaccharides of the low density lipoprotein receptor.

1983 • 369 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

Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain

1985 • 301 citations

Visualization of lipoprotein receptors by ligand blotting.

1983 • 273 citations

The inheritance of essential familial hypercholesterolemia

1964 • 268 citations

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

1983 • 261 citations

beta zero thalassemia in Sardinia is caused by a nonsense mutation.

1981 • 192 citations

Lambda Charon vectors (Ch32, 33, 34 and 35) adapted for DNA cloning in recombination-deficient hosts

1983 • 191 citations

Cassette of Eight Exons Shared by Genes for LDL Receptor and EGF Precursor

1985 • 185 citations

Experiences with the Homozygous Cases of Familial Hypercholesterolemia

1973 • 179 citations

Deletion of clustered O-linked carbohydrates does not impair function of low density lipoprotein receptor in transfected fibroblasts.

1986 • 177 citations

Immunoblot analysis of low density lipoprotein receptors in fibroblasts from subjects with familial hypercholesterolemia.

1982 • 175 citations

cDNA cloning of the bovine low density lipoprotein receptor: feedback regulation of a receptor mRNA.

1983 • 168 citations

Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes.

1985 • 155 citations

Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia.

1986 • 150 citations

Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene.

1985 • 64 citations