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LEPORRIER , Michel

Last name: LEPORRIER

First name: Michel

2012 (v1)

Journal article

Metadata-only

Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia

Ladroue, Charline Hoogewijs, David Gad, Sophie

BACKGROUND: Congenital secondary erythrocytoses are due to deregulation of hypoxia inducible factor resulting in overproduction of erythropoietin. The most common germline mutation identified in the hypoxia signaling pathway is the Arginine 200-Tryptophan mutant of the von Hippel-Lindau tumor suppressor gene, resulting in Chuvash polycythemia....

Uploaded on: February 28, 2023