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A Case of Idiopathic Pulmonary Arterial Hypertension with a BMPR2 Mutation / 대한내과학회지
Korean Journal of Medicine ; : 238-242, 2012.
Artículo en Coreano | WPRIM | ID: wpr-96836
ABSTRACT
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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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Exones / Proteínas Morfogenéticas Óseas / Disnea / Hemoptisis / Hipertensión / Hipertensión Pulmonar Límite: Adulto / Humanos / Masculino Idioma: Coreano Revista: Korean Journal of Medicine Año: 2012 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Exones / Proteínas Morfogenéticas Óseas / Disnea / Hemoptisis / Hipertensión / Hipertensión Pulmonar Límite: Adulto / Humanos / Masculino Idioma: Coreano Revista: Korean Journal of Medicine Año: 2012 Tipo del documento: Artículo