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Cardiopulmonary phenotype associated with human PHD2 mutation

Oxygen‐dependent regulation of the erythropoietin gene is mediated by the hypoxia‐inducible factor (HIF) family of transcription factors. When oxygen is plentiful, HIF undergoes hydroxylation by a family of oxygen‐dependent prolyl hydroxylase domain (PHD) proteins, promoting its association with the...

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Detalles Bibliográficos
Autores principales:	Talbot, Nick P., Smith, Thomas G., Balanos, George M., Dorrington, Keith L., Maxwell, Patrick H., Robbins, Peter A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5392514/ https://www.ncbi.nlm.nih.gov/pubmed/28400504 http://dx.doi.org/10.14814/phy2.13224

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