Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia

@article{Ang2002DisruptionOO,
  title={Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia},
  author={Sonny O. Ang and Hua Chen and Kiichi Hirota and Victor R. Gordeuk and Jaroslav Jelinek and Yongli Guan and Enli Liu and Adelina I. Sergueeva and Galina Y. Miasnikova and David Mole and Patrick H. Maxwell and David W. Stockton and Gregg L. Semenza and Josef T. Prchal},
  journal={Nature Genetics},
  year={2002},
  volume={32},
  pages={614-621}
}
Chuvash polycythemia is an autosomal recessive disorder that is endemic to the mid-Volga River region. We previously mapped the locus associated with Chuvash polycythemia to chromosome 3p25. The gene associated with von Hippel–Lindau syndrome, VHL, maps to this region, and homozygosity with respect to a C→T missense mutation in VHL, causing an arginine-to-tryptophan change at amino-acid residue 200 (Arg200Trp), was identified in all individuals affected with Chuvash polycythemia. The protein… CONTINUE READING

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