Gain-of-function EGLN1 prolyl hydroxylase (PHD2 D4E:C127S) in combination with EPAS1 (HIF-2α) polymorphism lowers hemoglobin concentration in Tibetan highlanders

Title
Gain-of-function EGLN1 prolyl hydroxylase (PHD2 D4E:C127S) in combination with EPAS1 (HIF-2α) polymorphism lowers hemoglobin concentration in Tibetan highlanders
Authors
Keywords
High altitude, Genetic adaptation, Polycythemia, Hypoxia, High-resolution melting assay
Journal
JOURNAL OF MOLECULAR MEDICINE-JMM
Volume 95, Issue 6, Pages 665-670
Publisher
Springer Nature
Online
2017-02-23
DOI
10.1007/s00109-017-1519-3

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