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Cardiopulmonary phenotype associated with human PHD2 mutation.
Nick P Talbot, Thomas G Smith, George M Balanos, Keith L Dorrington, Patrick H Maxwell, Peter A Robbins
Oct 10, 2018
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...
Hypoxia hypoxia‐inducible factor prolyl hydroxylase domain protein Pulmonary Circulation ventilation Adult blood pressure cardiac output Echocardiography Doppler Forced Expiratory Volume Heart Rate Humans Hypoxia Hypoxia-Inducible Factor-Proline Dioxygenases Male Mutation Phenotype Polycythemia Spirometry