The BMPR2 missense mutation p.K230N and pulmonary arterial hypertension | Zendy

Hayes Don | Zendy; Ramanathan Chandar | Zendy; Kopp Benjamin T. | Zendy

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The BMPR2 missense mutation p.K230N and pulmonary arterial hypertension

Author(s) -

Hayes Don,

Ramanathan Chandar,

Kopp Benjamin T.

Publication year - 2014

Publication title -

pediatric pulmonology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.866

H-Index - 106

eISSN - 1099-0496

pISSN - 8755-6863

DOI - 10.1002/ppul.22716

Subject(s) - missense mutation , medicine , pulmonologists , bmpr2 , mutation , pulmonary hypertension , bone morphogenetic protein , cardiology , genetics , intensive care medicine , gene , biology

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. 2014; 49:E5–E6. © 2013 Wiley Periodicals, Inc.

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