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KMID : 0882420120830020238
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Korean Journal of Medicine
2012 Volume.83 No. 2 p.238 ~ p.242
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A Case of Idiopathic Pulmonary Arterial Hypertension with a BMPR2 Mutation
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Kim Sung-Min
Koo Eun-Hee
Park Sun-Mi
Park Ji-Won
Ki Chang-Seok
Lee Young-Jae
Chang Sung-A
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Abstract
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Here, we describe the case of a 43-year-old male who was diagnosed with idiopathic pulmonary arterial hypertension and a mutation in the gene encoding bone morphogenetic protein receptor type 2 (BMPR2). The subject presented with hemoptysis and dyspnea on exertion and was diagnosed with pulmonary arterial hypertension. Genetic analysis revealed a novel deletion (c.1042_1047delGTTATT) in exon 8 of BMPR2. To the best of our knowledge, this is the first reported case of a BMPR2 mutation in a Korean patient with pulmonary arterial hypertension.
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KEYWORD
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Bone morphogenetic protein receptor, Idiopathic pulmonary hypertension
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