Identification of a low frequency missense mutation in contributing to pulmonary artery hypertension by whole-exome sequencing

Pulmonary arterial hypertension (PAH) represents a progressive disease characterized by abnormally high blood pressure in the pulmonary artery. Although mutations in the bone morphogenetic receptor 2 (BMPR2) are found in 80% of heritable, their low penetrance suggests that other unidentified genetic...

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Bibliografiska uppgifter
Huvudupphovsmän: Lihui Zou, Wenqing Li, Jingli Han, Yuanhua Yang, Junhua Jin, Fei Xiao, Xiaomao Xu, Zhenguo Zhai
Materialtyp: Artikel
Språk:English
Publicerad: Wiley 2018-08-01
Serie:Pulmonary Circulation
Länkar:https://doi.org/10.1177/2045894018794374