Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension

@article{Wang2009NovelPA,
  title={Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension},
  author={Hu Wang and Wen Li and Weili Zhang and Kai Sun and Xiaodong Song and Shuo Gao and Channa Zhang and Rutai Hui and Hong Hui Hu},
  journal={European Journal of Human Genetics},
  year={2009},
  volume={17},
  pages={1063-1069}
}
Pulmonary arterial hypertension (PAH), which is clinically characterized by a sustained elevation in mean pulmonary artery pressure leading to significant morbidity and mortality, is caused by intense remodeling of small pulmonary arteries by endothelial and smooth muscle proliferation. Genetic studies in familial PAH (FPAH) have revealed heterozygous germline mutations in the bone morphogenetic protein type II receptor (BMPR2), a receptor for the transforming growth factor (TGF)-β/BMP… CONTINUE READING