A novel mutation in the BMPR2 gene in familial pulmonary arterial hypertension.

@article{Fu2008ANM,
  title={A novel mutation in the BMPR2 gene in familial pulmonary arterial hypertension.},
  author={Li-jun Fu and Ai-qing Zhou and Mei-rong Huang and Shu-hong Shen and Jie Shen and Zhifang Zhang and Fen Li},
  journal={Chinese medical journal},
  year={2008},
  volume={121 5},
  pages={399-404}
}
BACKGROUND Familial pulmonary arterial hypertension (FPAH) is an autosomal dominant disorder characterized by plexiform lesions of endothelial cells in pulmonary arterioles which leads to elevated pulmonary arterial pressure, right-sided heart failure and death. Heterozygous mutations in the bone morphogenetic protein type II receptor gene (BMPR2) have been found to underlie a majority of FPAH cases. More than 140 distinct mutations have been identified in FPAH cases and in idiopathic pulmonary… CONTINUE READING