Two partial deletion mutations involving the same Alu sequence within intron 8 of the LDL receptor gene in Korean patients with familial hypercholesterolemia

DNA sequencing with chain-terminating inhibitors

Frederick Sanger, S. Nicklen, Alan Coulson · Proceedings of the National Academy of Sciences · 1977 · 69.1K citations · Full text

Dna, Engineering, Dna Analysis +20

Estimation of the Concentration of Low-Density Lipoprotein Cholesterol in Plasma, Without Use of the Preparative Ultracentrifuge

William T. Friedewald, Robert I. Levy, Donald S. Fredrickson · Clinical Chemistry · 1972 · 32.1K citations

Lipid Analysis, Hyperlipidemia, Direct Procedure +19

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

Tokuo Yamamoto, Christopher G. Davis, Michael S. Brown et al. · Cell · 1984 · 1.4K citations

Human Ldl Receptor, Protein Function, Biochemistry +9

Base sequence studies of 300 nucleotide renatured repeated human DNA clones

Prescott L. Deininger, Douglas J. Jolly, Carol M. Rubin et al. · Journal of Molecular Biology · 1981 · 604 citations

Dna Sequencing, Dna, Human Dna Clones +8

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

Mark A. Lehrman, Wolfgang J. Schneider, Thomas C. Südhof et al. · Science · 1985 · 463 citations

Signal Transduction, Biochemistry, Natural Sciences +14