Article
Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification.
Cell and tissue research - 1 Nov 2017
Yao Xiang-Ping, Zhao Miao, Wang Chong, Guo Xin-Xin, Su Hui-Zhen, Dong En-Lin, Chen Hai-Ting, Lai Jing-Hui, Liu Yao-Bin, Wang Ning, Chen Wan-Jin
Abstract excerpt
Primary familial brain calcification (PFBC) is a neuropsychiatric disorder characterized by bilateral cerebral calcification with diverse neurologic or psychiatric symptoms. Recently, XPR1 variation has accounted for PFBC as another new causative gene. However, little is known about the distribution and basic function of XPR1 and its interaction with the other three pathogenic genes for PFBC (SLC20A2, PDGFRB and...
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