Article
Identification of a novel mutation in the gene for bone morphogenetic protein receptor II in an Israeli patient with familial primary pulmonary hypertension.
The Israel Medical Association journal : IMAJ - 1 Mar 2004
Cahn Avivit, Meiner Vardiella, Leitersdorf Eran, Berkman Neville
Abstract excerpt
BACKGROUND: Primary pulmonary hypertension is a rare disorder, characterized by progressive pulmonary hypertension and right heart failure. It may be familial or sporadic. Mutations in bone morphogenetic protein receptor II (BMPR2), a member of the transforming growth factor-beta receptor superfa...
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