Cell · 1987 · 290 citations · 36 references
Life SciencesGeneticsMolecular GeneticsCardiovascular GeneticsHuman GeneticsMedical GeneticsFamilial HypercholesterolemiaGenetic DisordersLipid DisordersLipid Metabolism DisordersMendelian Cardiovascular DisordersSingle-gene DisordersHomozygous Familial HypercholesterolemiaInherited Metabolic Lipid DefectsLdl Receptor Gene MutationsLow-density Lipoprotein Receptor Genetics
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George M. Church, W Gilbert · Proceedings of the National Academy of Sciences · 1984 · 8.2K citations · Full text
The Metabolic Basis of Inherited Disease.
Annals of Internal Medicine · 1983 · 2.7K citations