Article
Missense mutations of the BMPR1B (ALK6) gene in childhood idiopathic pulmonary arterial hypertension.
Circulation journal : official journal of the Japanese Circulation Society - 1 Jan 2012
Chida Ayako, Shintani Masaki, Nakayama Tomotaka, Furutani Yoshiyuki, Hayama Emiko, Inai Kei, Saji Tsutomu, Nonoyama Shigeaki, Nakanishi Toshio
Abstract excerpt
BACKGROUND: Mutations in the bone morphogenetic protein receptor type 2 (BMPR2) gene, the activin receptor-like kinase 1 (ALK1) gene, and SMAD8 gene have been reported in heritable pulmonary arterial hypertension (HPAH) and in idiopathic pulmonary arterial hypertension (IPAH). However, almost 30% of HPAH cases and 60-90% of IPAH cases have no mutations in those genes. This suggests that there remain unidentified...
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