An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

@article{Dukov2011AnAG,
  title={An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.},
  author={Lucie Du{\vs}kov{\'a} and Lenka Kope{\vc}kov{\'a} and Eva Jansov{\'a} and Luk{\'a}{\vs} Tich{\'y} and Tomas Freiberger and Petra Zapletalov{\'a} and Vladim{\'i}r So{\vs}ka and Barbora Rav{\vc}ukov{\'a} and Lenka Fajkusov{\'a}},
  journal={Atherosclerosis},
  year={2011},
  volume={216 1},
  pages={139-45}
}
OBJECTIVE Familial hypercholesterolemia (FH) is an inborn disorder of lipid metabolism characterised by elevated plasma concentrations of low-density lipoprotein cholesterol and total cholesterol. This imbalance results in accelerated atherosclerosis and premature coronary heart disease. The early identification and treatment of FH patients is extremely important because it leads to significant reduction of both coronary morbidity and mortality. FH is transmitted in an autosomal dominant manner… CONTINUE READING

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