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An Erythrocytosis-Associated Mutation in the Zinc Finger of PHD2 Provides Insights into Its Binding of p23

BACKGROUND: Loss of function mutations in the EGLN1 gene are a cause of erythrocytosis. EGLN1 encodes for prolyl hydroxylase domain protein 2 (PHD2). PHD2 hydroxylates and downregulates hypoxia-inducible factor-2α (HIF-2α), a transcription factor that regulates erythropoiesis. While the large majori...

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Detalles Bibliográficos
Autores principales: Song, Daisheng, Guan, Wei, Coon, Lea M, Al-Kali, Aref, Oliveira, Jennifer L, Lee, Frank S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6916684/
https://www.ncbi.nlm.nih.gov/pubmed/31853455
http://dx.doi.org/10.2147/HP.S230502