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Familial Hypercholesterolemia: Gene Therapy

  1. Marina Cuchel,
  2. Daniel J Rader

Published Online: 27 JAN 2006

DOI: 10.1038/npg.els.0005751



How to Cite

Cuchel, M. and Rader, D. J. 2006. Familial Hypercholesterolemia: Gene Therapy. eLS. .

Author Information

  1. University of Pennsylvania, Philadelphia, Pennsylvania, USA

Publication History

  1. Published Online: 27 JAN 2006


Familial hypercholesterolemia is a monogenic disease characterized by high levels of plasma cholesterol and premature cardiovascular disease. In its homozygous form, conventional pharmacological therapy is not effective and gene therapy could become a viable treatment.


  • familial hypercholesterolemia;
  • gene therapy;
  • LDL receptor;
  • VLDL receptor;
  • adenoviral vector;
  • adeno-associated vector;
  • cardiovascular disorders;
  • LDL cholesterol