Document Detail


The BMPR2 missense mutation p.K230N and pulmonary arterial hypertension.
MedLine Citation:
PMID:  23139147     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
Don Hayes; Chandar Ramanathan; Benjamin T Kopp
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-11-8
Journal Detail:
Title:  Pediatric pulmonology     Volume:  -     ISSN:  1099-0496     ISO Abbreviation:  Pediatr. Pulmonol.     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-11-9     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8510590     Medline TA:  Pediatr Pulmonol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Wiley Periodicals, Inc.
Affiliation:
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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