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={Magdalena Chmara and Bartosz Wasąg and Monika Żuk and Jolanta Kubalska and A. Nowak Wegrzyn and Małgorzata Ewa Bednarska-Makaruk and Ewa Pronicka and Hanna Wehr and Joep C. Defesche and Andrzej Rynkiewicz and J. Gualberto Lim{\'o}n},
  journal={Journal of Applied Genetics},
  year={2010},
  volume={51},
  pages={95-106}
}
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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Citations

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The genetic spectrum of familial hypercholesterolemia in south-eastern Poland

  • Metabolism: clinical and experimental
  • 2016
VIEW 12 EXCERPTS
CITES RESULTS & BACKGROUND
HIGHLY INFLUENCED

Universal Screening for Familial Hypercholesterolemia in Children.

  • Journal of the American College of Cardiology
  • 2015
VIEW 3 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

References

Publications referenced by this paper.
SHOWING 1-10 OF 31 REFERENCES

2001.Frequencyof theR3500Qmutation of the apolipoprotein B-100 gene in a sample screened clinically for familial hypercholesterolemia

A Kalina, A Csaszar, +3 authors SzalaiC
  • in Hungary. Atherosclerosis
  • 2001
VIEW 4 EXCERPTS
HIGHLY INFLUENTIAL

1999.Mutations in the apolipoprotein (apo)B-100receptor-bindingregion: detectionof apoB-100 (Arg3500—>Trp) associated with two new haplotypes and evidence that apo

E Fisher, H Scharnagl, +3 authors WielandH
  • 1999
VIEW 5 EXCERPTS
HIGHLY INFLUENTIAL

Molecular genetics of familial hypercholesterolaemia in Norway.

  • Journal of internal medicine
  • 1997
VIEW 4 EXCERPTS
HIGHLY INFLUENTIAL

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