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

HUMAN GENOME VARIATION（2017）

引用 7|浏览0

暂无评分

摘要

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 IVS9-2A>G) and one deletion (c.1279delG) mutation.

查看译文

关键词

Disease genetics,Genetic counselling,Biomedicine,general,Human Genetics,Molecular Medicine,Gene Function,Gene Expression,Gene Therapy

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要