Ghosh MC

No ORCID on file · 1 paper in corpus
2018
The Journal of clinical investigation ·doi:10.1172/jci97684

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…