Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrentLDLR mutations

@article{Chmara2010MolecularCO,
  title={Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrentLDLR mutations},
  author={M. Chmara and B. Wasąg and M. Żuk and J. Kubalska and A. Węgrzyn and M. Bednarska-Makaruk and E. Pronicka and H. Wehr and J. Defesche and A. Rynkiewicz and J. Limon},
  journal={Journal of Applied Genetics},
  year={2010},
  volume={51},
  pages={95-106}
}
  • M. Chmara, B. Wasąg, +8 authors J. Limon
  • Published 2010
  • Biology, Medicine
  • Journal of Applied Genetics
  • Autosomal dominant hypercholesterolemia (ADH) is caused by mutations in the genes coding for the low-density lipoprotein receptor (LDLR), apolipoprotein B-100 (APOB), or proprotein convertase subtilisin/kexin type 9 (PCSK9). In this study, a molecular analysis ofLDLR andAPOB was performed in a group of 378 unrelated ADH patients, to explore the mutation spectrum that causes hypercholesterolemia in Poland. All patients were clinically diagnosed with ADH according to a uniform protocol and… CONTINUE READING
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