| The BMPR2 missense mutation p.K230N and pulmonary arterial hypertension. | |
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MedLine Citation:
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PMID: 23139147 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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We present a patient that is the index case of pulmonary arterial hypertension (PAH) in a child due to the bone morphogenetic protein type II (BMPR2) missense mutation p.K230N, also known as c.690A>T. Missense mutations typically have earlier onset and more severe disease in PAH, so pulmonologists should be aware of this in the evaluation of PAH in children. Pediatr Pulmonol. © 2012 Wiley Periodicals, Inc. |
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Authors:
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Don Hayes; Chandar Ramanathan; Benjamin T Kopp |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-11-8 |
Journal Detail:
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Title: Pediatric pulmonology Volume: - ISSN: 1099-0496 ISO Abbreviation: Pediatr. Pulmonol. Publication Date: 2012 Nov |
Date Detail:
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Created Date: 2012-11-9 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8510590 Medline TA: Pediatr Pulmonol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2012 Wiley Periodicals, Inc. |
Affiliation:
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Section of Pulmonary Medicine, Nationwide Children's Hospital and The Ohio State University, Department of Pediatrics, Columbus, Ohio. hayes.705@osu.edu. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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