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.
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
Similares
MEDLINE
...
LILACS
LIS