Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia

@article{Mihaylov2004ScreeningFP,
  title={Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia},
  author={Vassil A Mihaylov and Anelia D. Horvath and Alexey Savov and Elina F Kurshelova and Ivanka D Paskaleva and Assen Rachev Goudev and Ivaylo R Stoilov and Varban S. Ganev},
  journal={Journal of Human Genetics},
  year={2004},
  volume={49},
  pages={173-176}
}
AbstractFamilial hypercholesterolemia (FH) is a common, autosomal dominant disorder of lipid metabolism, caused by defects in the receptor-mediated uptake of LDL (low-density lipoproteins) due to mutations in the LDL receptor gene (LDLR). Mutations underlying FH in Bulgaria are largely unknown. The aim of the present study was to provide information about the spectrum of point mutations in LDLR in a sample of 45 Bulgarian patients with severe hypercholesterolemia. Exons 3, 4, 6, 8, 9, and 14… CONTINUE READING

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