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Comparative Analysis of BMPR2 Gene and Its Mutations in Idiopathic Pulmonary Arterial Hypertension*

Wai P. K. Wong, PhD; James A. Knowles, MD, PhD; Jane H. Morse, MD
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*From the Department of Medicine, Department of Psychiatry, Columbia Genome Center, Columbia University College of Physicians and Surgeons and the New York State Psychiatric Institute, New York, NY.

Correspondence to: James A. Knowles, MD, PhD, Associate Professor of Clinical Psychiatry, Columbia University College of Physicians and Surgeons, Columbia Genome Center, New York State Psychiatric Institute, 1051 Riverside Dr, Room 5916, Unit 28, New York, NY 10032; e-mail jak8@columbia.edu



Chest. 2005;128(6_suppl):615S. doi:10.1378/chest.128.6_suppl.615S-a
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Mutations of the gene BMPR2 encoding the protein bone morphogenetic protein receptor type II have been found in the patients with familial and sporadic forms of idiopathic pulmonary arterial hypertension (IPAH). The BMPR2 gene belongs to the transforming growth factor-β receptor protein family, which is a large family of different proteins that regulate normal cell growth. When the gene is mutated or becomes defective, it allows the vascular cells within the small pulmonary arteries to grow unregulated and block the blood vessels.

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