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EPAS 1, congenital heart disease, and high altitude: disclosures by genetics, bioinformatics, and experimental embryology

23 Apr 2019

Abstract excerpt

Abstract The high-altitude environment is a challenge for human settlement. Low oxygen concentrations, extreme cold, and a harsh arid climate are doubtlessly challenges for the colonization of the Tibetan plateau. I am delighted to comment on the article of Pan et al. (2018) on mutations in endothelial PAS domain-containing protein 1 (EPAS1) in congenital heart disease in Tibetans. In humans, the EPAS1 gene is...

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PMID: 31015364
DOI: 10.1042/bsr20182197

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