Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.

@article{Lombardi2000MolecularGT,
  title={Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.},
  author={Maria Paola Lombardi and Egbert J. W. Redeker and Joep C. Defesche and Sylvia W. A. Kamerling and Mieke D. Trip and Marcel Mam Mannens and Louis M. Havekes and John J. P. Kastelein},
  journal={Clinical genetics},
  year={2000},
  volume={57 2},
  pages={
          116-24
        }
}
Mutations in the LDL receptor are responsible for familial hypercholesterolemia (FH). At present, more than 600 mutations of the LDL receptor gene are known to underlie FH. However, the array of mutations varies considerably in different populations. Therefore, the delineation of essentially all LDL receptor gene mutations in a population represents a prerequisite for the implementation of nation-wide genetic testing for FH. In this study, the frequency and geographical distribution of 13 known… CONTINUE READING
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