The BMPR2 missense mutation p.K230N and pulmonary arterial hypertension.

@article{Hayes2014TheBM,
  title={The BMPR2 missense mutation p.K230N and pulmonary arterial hypertension.},
  author={Don Hayes and Chandar Ramanathan and Benjamin T Kopp},
  journal={Pediatric pulmonology},
  year={2014},
  volume={49 1},
  pages={
          E5-6
        }
}
We present a patient that is the index case of pulmonary arterial hypertension (PAH) in a child due to the bone morphogenetic protein type II (BMPR2) missense mutation p.K230N, also known as c.690A>T. Missense mutations typically have earlier onset and more severe disease in PAH, so pulmonologists should be aware of this in the evaluation of PAH in children. 
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