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Article

Bone morphogenetic protein receptor type 2 mutations, clinical phenotypes and outcomes of Japanese patients with sporadic or familial pulmonary hypertension.

Respirology (Carlton, Vic.) - 1 Oct 2013

Kabata Hiroki, Satoh Toru, Kataoka Masaharu, Tamura Yuichi, Ono Tomohiko, Yamamoto Miyuki, Huqun, Hagiwara Koichi, Fukuda Keiichi, Betsuyaku Tomoko, Asano Koichiro

Abstract excerpt

BACKGROUND AND OBJECTIVE: Mutation of bone morphogenetic protein receptor type 2 (BMPR2) is a cause of pulmonary arterial hypertension (PAH). We measured the prevalence of this mutation and its impact on the phenotypes and long-term clinical outcomes in Japanese patients. METHODS: Between 1999 and 2007, we consecutively enrolled and, until March 2012, followed 49 Japanese patients with PAH, including nine...

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Source

Identifiers

PMID: 23675998
DOI: 10.1111/resp.12117

Genes

BMPR2
PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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