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Article

Role of <i>BMPR2</i> Alternative Splicing in Heritable Pulmonary Arterial Hypertension Penetrance

25 Aug 2012

Abstract excerpt

BACKGROUND: Bone morphogenic protein receptor 2 (BMPR2) gene mutations are the most common cause of heritable pulmonary arterial hypertension. However, only 20% of mutation carriers get clinical disease. Here, we explored the hypothesis that this reduced penetrance is due in part to an alteration in BMPR2 alternative splicing. METHODS AND RESULTS: Our data showed that BMPR2 has multiple alternative spliced...

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PMID: 22923426
DOI: 10.1161/circulationaha.112.106245

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