Mutations in EPAS1 in congenital heart disease in Tibetans

EPAS1 encodes HIF2 and is closely related to high altitude chronic hypoxia. Mutations in the EPAS1 coding sequence are associated with several kinds of human diseases, including syndromic congenital heart disease (CHD). However, whether there are rare EPAS1 coding variants related to Tibetan non-syn...

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Vydáno v:Biosci Rep
Hlavní autoři: Pan, Hong, Chen, Qiuhong, Qi, Shenggui, Li, Tengyan, Liu, Beihong, Liu, Shiming, Ma, Xu, Wang, Binbin
Médium: Artigo
Jazyk:Inglês
Vydáno: Portland Press Ltd. 2018
Témata:
Research Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6435565/
https://ncbi.nlm.nih.gov/pubmed/30487161
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BSR20181389
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