Article
Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.
Nature genetics - 1 Dec 2002
Ang Sonny O, Chen Hua, Hirota Kiichi, Gordeuk Victor R, Jelinek Jaroslav, Guan Yongli, Liu Enli, Sergueeva Adelina I, Miasnikova Galina Y, Mole David, Maxwell Patrick H, Stockton David W, Semenza Gregg L, Prchal Josef T
Abstract excerpt
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),...
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