Functional mutations in 5'UTR of the BMPR2 gene identified in Chinese families with pulmonary arterial hypertension

    Pulmonary circulation, Volume 6, Issue 1, 2016, Pages 103-108.

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    Keywords:
    bone morphogenetic protein type 2mutationpulmonary hypertension

    Abstract:

    Pulmonary arterial hypertension (PAH) is a progressive pulmonary vasculopathy with significant morbidity and mortality. Bone morphogenetic protein receptor type 2 (BMPR2) has been well recognized as the principal gene responsible for heritable and sporadic PAH. Four unrelated Chinese patients with PAH and their family members, both sympto...More

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