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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2018-08-01
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| Series: | Pulmonary Circulation |
| Online Access: | https://doi.org/10.1177/2045894018794374 |