Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension

Hironori Hara, Norifumi Takeda, Hiroyuki Morita, Masaru Hatano, Eisuke Amiya, Hisataka Maki, Shun Minatsuki, Mizuri Taki, Yasuyuki Shiraishi, Takayuki Fujiwara, Sonoko Maemura, Issei Komuro

研究成果: Article査読

5 被引用数 (Scopus)

抄録

Mutations in the bone morphogenetic protein receptor type II (BMPR2) gene may result in the development of pulmonary arterial hypertension (PAH). However, the contribution of disease-causing mutations to the disease characteristics and responsiveness to recent treatment remains to be elucidated. We report three Japanese cases of advanced PAH with novel BMPR2 mutations, including two splicing mutations (IVS8-6_7delTTinsA and IVS9-2A4G) and one deletion (c.1279delG) mutation.

本文言語English
論文番号17010
ジャーナルHuman Genome Variation
4
DOI
出版ステータスPublished - 2017

ASJC Scopus subject areas

  • 生化学
  • 分子生物学
  • 遺伝学

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