Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.4K citations · Full text

Chromatin, Dna Sequencing, Molecular Biological Method +11

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

Masato Orita, Hiroyuki Iwahana, Hiroshi Kanazawa et al. · Proceedings of the National Academy of Sciences · 1989 · 3.6K citations · Full text

Genetic Analysis, Mobility Shift Analysis, Genetic Testing +15

Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics

Roger R. Williams, Steven C. Hunt, Mary Catherine Schumacher et al. · The American Journal of Cardiology · 1993 · 563 citations

Metabolic Syndrome, Lipid Disorder, Genetic Testing +11

Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia

INM Day, RA Whittall, SD O’Dell et al. · Human Mutation · 1997 · 121 citations

Association of Specific LDL Receptor Gene Mutations With Differential Plasma Lipoprotein Response to Simvastatin in Young French Canadians With Heterozygous Familial Hypercholesterolemia

Patrick Couture, Louis D. Brun, F Szöts et al. · Arteriosclerosis Thrombosis and Vascular Biology · 1998 · 92 citations · Full text