Article
Clinical characteristics and survival of Chinese patients diagnosed with pulmonary arterial hypertension who carry BMPR2 or EIF2KAK4 variants.
BMC pulmonary medicine - 29 May 2020
Zeng Qixian, Yang Hang, Liu Bingyang, Ma Yanyun, Liu Zhihong, Chen Qianlong, Li Wenke, Luo Qin, Zhao Zhihui, Zhou Zhou, Xiong Changming
Abstract excerpt
BACKGROUND: Variants in the gene encoding bone morphogenetic protein receptor type II (BMPR2) are the most common genetic cause of pulmonary arterial hypertension (PAH), whereas biallelic variants in the eukaryotic translation initiation factor 2 alpha kinase 4 gene (EIF2AK4) are described in pulmonary veno-occlusive disease/pulmonary capillary haemangiomatosis (PVOD/PCH). Racial background may influence the...
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