Article
EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension.
Chest - 1 Apr 2017
Best D Hunter, Sumner Kelli L, Smith Benjamin P, Damjanovich-Colmenares Kristy, Nakayama Ikue, Brown Lynette M, Ha Youna, Paul Eleri, Morris Ashley, Jama Mohamed A, Dodson Mark W, Bayrak-Toydemir Pinar, Elliott C Gregory
Abstract excerpt
BACKGROUND: Differentiating pulmonary venoocclusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH) from idiopathic pulmonary arterial hypertension (IPAH) or heritable pulmonary arterial hypertension (HPAH) is important clinically. Mutations in eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) cause heritable PVOD and PCH, whereas mutations in other genes cause HPAH. The aim of this...
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