Metabolic studies in familial hypercholesterolemia. Evidence for a gene-dosage effect in vivo.

@article{Bilheimer1979MetabolicSI,
  title={Metabolic studies in familial hypercholesterolemia. Evidence for a gene-dosage effect in vivo.},
  author={David W. Bilheimer and Neil J. Stone and Scott M Grundy},
  journal={The Journal of clinical investigation},
  year={1979},
  volume={64 2},
  pages={
          524-33
        }
}
To investigate the gene-dosage effect in familial hypercholesterolemia (FH), metabolic studies were conducted in a group of well-characterized patients with either heterozygous (n = 7) or homozygous (n = 7) FH and the results were compared to those obtained in normal subjects (n = 6). The turnover of (125)I-labeled low-density lipoprotein (LDL) was measured in all of the normals, all but one of the FH heterozygotes, and in all of the homozygotes. Chemical cholesterol balance was performed… CONTINUE READING

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