Frequency of Low-Density Lipoprotein Receptor Gene Mutations in Patients With a Clinical Diagnosis of Familial Combined Hyperlipidemia in a Clinical Setting

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

Life Sciences, Genetics, Molecular Genetics +14

Hyperlipidemia in Coronary Heart Disease II. GENETIC ANALYSIS OF LIPID LEVELS IN 176 FAMILIES AND DELINEATION OF A NEW INHERITED DISORDER, COMBINED HYPERLIPIDEMIA

Joseph L. Goldstein, Helmut G. Schrott, William R. Hazzard et al. · Journal of Clinical Investigation · 1973 · 1.5K citations · Full text

Medicine, Cardiology, Genetics +17

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 · 571 citations

Medicine, Genetics, Molecular Genetics +11

Different combinations of cysteine-rich repeats mediate binding of low density lipoprotein receptor to two different proteins

David W. Russell, M S Brown, J L Goldstein · Journal of Biological Chemistry · 1989 · 314 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +16

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

Peter O. Kwiterovich, Donald S. Fredrickson, Robert I. Levy · Journal of Clinical Investigation · 1974 · 190 citations · Full text

Life Sciences, Genetics, Pediatrics +12