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

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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Bibliographic Details
Main Authors:	Lihui Zou, Wenqing Li, Jingli Han, Yuanhua Yang, Junhua Jin, Fei Xiao, Xiaomao Xu, Zhenguo Zhai
Format:	Article
Language:	English
Published:	SAGE Publishing 2018-08-01
Series:	Pulmonary Circulation
Online Access:	https://doi.org/10.1177/2045894018794374

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