A genetic mechanism for Tibetan high-altitude adaptation

Tibetans do not exhibit increased hemoglobin concentration at high altitude. We describe a high-frequency missense mutation in the EGLN1 gene, which encodes prolyl hydroxylase 2 (PHD2), that contributes to this adaptive response. We show that a variant in EGLN1, c.[12C>G; 380G>C], contributes...

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Detalhes bibliográficos
Publicado no:Nat Genet
Main Authors: Lorenzo, Felipe R, Huff, Chad, Myllymäki, Mikko, Olenchock, Benjamin, Swierczek, Sabina, Tashi, Tsewang, Gordeuk, Victor, Wuren, Tana, Ri-Li, Ge, McClain, Donald A, Khan, Tahsin M, Koul, Parvaiz A, Guchhait, Prasenjit, Salama, Mohamed E, Xing, Jinchuan, Semenza, Gregg L, Liberzon, Ella, Wilson, Andrew, Simonson, Tatum S, Jorde, Lynn B, Kaelin, William G, Koivunen, Peppi, Prchal, Josef T
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4473257/
https://ncbi.nlm.nih.gov/pubmed/25129147
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3067
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