Identities and frequencies of BMPR2 mutations in Chinese patients with idiopathic pulmonary arterial hypertension
β Scribed by H Wang; Q-Q Cui; K Sun; L Song; Y-B Zou; X-J Wang; L Jia; X Liu; S Gao; C-N Zhang; R-T Hui
- Book ID
- 110888945
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 605 KB
- Volume
- 77
- Category
- Article
- ISSN
- 0009-9163
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## Abstract Pulmonary arterial hypertension (PAH) and hereditary hemorrhagic telangiectasia (HHT) are distinct clinical entities caused by germline mutations in genes encoding members of the TGFΞ²/BMP superfamily: __BMPR2__ in PAH and __ACVRL1__, __ENG__, or __SMAD4__ in HHT. When PAH and HHT occasi
Mutations of the BMPR2 gene predispose to pulmonary arterial hypertension (PAH), a serious, progressive disease of the pulmonary vascular system. However, despite the fact that most PAH families are consistent with linkage to the BMPR2 locus, sequencing only identifies mutations in some 55% of famil
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