Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA.

@article{Holla2005IdentificationOD,
  title={Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA.},
  author={\Oystein Lunde Holla and Christ{\'e}l Teie and Knut Erik Berge and Trond P. Leren},
  journal={Clinica chimica acta; international journal of clinical chemistry},
  year={2005},
  volume={356 1-2},
  pages={164-71}
}
BACKGROUND Familial hypercholesterolemia (FH) is caused by mutations in the low density lipoprotein (LDL) receptor gene. In this study we have compared multiplex ligation-dependent probe amplification (MLPA) and long-range PCR to detect large deletions/duplications in the LDL receptor gene. METHOD DNA from 431 unrelated FH patients without mutations in the LDL receptor gene detectable by DNA sequencing and who had total serum cholesterol levels above 10.0 mmol/l, was subjected to analyses by… CONTINUE READING

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References

Publications referenced by this paper.
Showing 1-10 of 36 references

Familial hypercholesterolemia

JL Goldstein, HH Hobbs, MS. Brown
2001
View 2 Excerpts

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