Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension | Zendy

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

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Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension

Author(s) -

Hironori Hara,

Norifumi Takeda,

Hiroyuki Morita,

Masaru Hatano,

Eisuke Amiya,

Hisataka Maki,

Shun Minatsuki,

Mizuri Taki,

Yasuyuki Shiraishi,

Takayuki Fujiwara,

Sonoko Maemura,

Issei Komuro

Publication year - 2017

Publication title -

human genome variation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.796

H-Index - 14

ISSN - 2054-345X

DOI - 10.1038/hgv.2017.10

Subject(s) - bmpr2 , bone morphogenetic protein receptor , mutation , pulmonary hypertension , medicine , gene , bone morphogenetic protein , genetics , disease , cancer research , bioinformatics , biology

Mutations in the bone morphogenetic protein receptor type II () 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 mutations, including two splicing mutations (IVS8-6_7delTTinsA and IVS9-2A>G) and one deletion (c.1279delG) mutation.

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