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Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension

✍ Scribed by Wang, Hu; Li, Wen; Zhang, Weili; Sun, Kai; Song, Xiaodong; Gao, Shuo; Zhang, Channa; Hui, Rutai; Hu, Hong

Book ID: 109849121
Publisher: Nature Publishing Group
Year: 2009
Tongue: English
Weight: 233 KB
Volume: 17
Category: Article
ISSN: 1018-4813
DOI: 10.1038/ejhg.2009.3

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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