Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients.

Hang YangQixian ZengYanyun MaBingyang LiuQianlong ChenWenke LiChangming XiongZhou Zhou

Published in: Respiratory research (2018)

The panel assay represented a highly valuable tool in PAH genetic testing, not only for the detection of small sequence alterations, but also for an indication of BMPR2 CNVs, which had implications for the specific samples to perform further MLPA assay. Analyses of PAH causal genes have a great help to clinical diagnosis and deep implications in disease treatment.

Keyphrases

pulmonary arterial hypertension
pulmonary artery
pulmonary hypertension
end stage renal disease
high throughput
ejection fraction
genome wide
newly diagnosed
chronic kidney disease
prognostic factors
polycyclic aromatic hydrocarbons
transcription factor
combination therapy
patient reported