Quality Assessment of the Genetic Test for Familial Hypercholesterolemia in The Netherlands

@inproceedings{Kindt2013QualityAO,
  title={Quality Assessment of the Genetic Test for Familial Hypercholesterolemia in The Netherlands},
  author={Iris Kindt and Roeland Huijgen and Marieke Boekel and Kristiaan J. van der Gaag and Joep C. Defesche and John J. P. Kastelein and Peter de Knijff},
  booktitle={Cholesterol},
  year={2013}
}
Introduction. Familial hypercholesterolemia (FH) is an inherited disorder associated with a severely increased risk of cardiovascular disease. Although DNA test results in FH are associated with important medical and ethical consequences, data on accuracy of genetic tests is scarce. Methods. Therefore, we performed a prospective study to assess the overall accuracy of the DNA test used in the genetic cascade screening program for FH in The Netherlands. Individuals aged 18 years and older tested… CONTINUE READING

Figures, Tables, and Topics from this paper.

References

Publications referenced by this paper.
SHOWING 1-10 OF 31 REFERENCES

The Metabolic and Molecular Bases of Inherited Disease

J. L. Goldstein, H. H. Hobbs, M. S. Brown
  • 2001
VIEW 4 EXCERPTS
HIGHLY INFLUENTIAL

Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes

  • Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation
  • 2011
VIEW 1 EXCERPT

Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children

A. van derGraaf, H. J. Avis, D.M.Kusters
  • Circulation, vol. 123, no. 11, pp. 1167–1173, 2011.
  • 2011

Similar Papers

Loading similar papers…