Article
Bone morphogenetic protein receptor-II mutation Arg491Trp causes malignant phenotype of familial primary pulmonary hypertension.
Biochemical and biophysical research communications - 19 Mar 2004
Zhicheng Jing, Lihe Lu, Zhiyan Han, Xiansheng Cheng, Yubao Zou, Yuejin Yang, Rutai Hui
Abstract excerpt
A four-generation pedigree of familial primary pulmonary hypertension (FPPH) with 14 alive members was collected. In the family, three of the 14 alive familial members were diagnosed as FPPH. Mutations in bone morphogenetic protein receptor-II (BMPR-II) gene were screened by using sequencing analysis. A C-to-T transition at position 1471 in exon 11 of the BMPR-II gene was identified, resulting in an Arg491Trp...
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