Article
Functional heterogeneity of bone morphogenetic protein receptor-II mutants found in patients with primary pulmonary hypertension.
Molecular biology of the cell - 1 Sept 2002
Nishihara Ayako, Watabe Tetsuro, Imamura Takeshi, Miyazono Kohei
Abstract excerpt
Germline mutations in the BMPR2 gene encoding bone morphogenetic protein (BMP) type II receptor (BMPR-II) have been reported in patients with primary pulmonary hypertension (PPH), but the contribution of various types of mutations found in PPH to the pathogenesis of clinical phenotypes has not been elucidated. To determine the biological activities of these mutants, we performed functional assays testing their...
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