Article
Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification.
Gene - 15 Oct 2013
Chen Wan-Jin, Yao Xiang-Ping, Zhang Qi-Jie, Ni Wang, He Jin, Li Hong-Fu, Liu Xin-Yi, Zhao Gui-Xian, Murong Shen-Xing, Wang Ning, Wu Zhi-Ying
Abstract excerpt
Idiopathic basal ganglia calcification (IBGC) is a rare neuropsychiatric disorder characterized by bilateral and symmetric cerebral calcifications. Recently, SLC20A2 was identified as a causative gene for familial IBGC, and three mutations were reported in a northern Chinese population. Here, we aimed to explore the mutation spectrum of SLC20A2 in a southern Chinese population. Sanger sequencing was employed to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.