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- :McClain, Donald A. ;Abuelgasim, Khadega A.September 27 2012 | J Mol Med (Berl). 91(1):59-67:In Chuvash polycythemia, a homozygous 598C>T mutation in the von Hippel-Lindau gene (VHL) leads to an R200W substitution in VHL protein, impaired degr...
- :Zhang, Xu ;Zhang, WeiAug 28 2013 | Blood Cells Mol Dis. 2013; 52(1):35-45.:In congenital Chuvash polycythemia (CP), VHL(R200W) homozygosity leads to elevated hypoxia inducible factor (HIF) levels at normoxia. CP is often trea...
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