Rouault TA
ORCID: 0000-0003-0062-0245
· 1 paper in corpus
2018
Chuvash polycythemia is an inherited disease caused by a homozygous germline VHLR200W mutation, which leads to impaired degradation of HIF2α, elevated levels of serum erythropoietin, and erythrocytosis/polycythemia. This phenotype is recapi…