Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

NATURE GENETICS（2012）

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摘要

Xue Zhang, Jing Yu Liu and colleagues report SLC20A2 mutations in familial idiopathic basal ganglia calcification (IBGC, also known as Fahr disease). These mutations impair the function of the type III phosphate transporter encoded by SLA20A2 and may disturb phosphate homeostasis in the body.

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关键词

Disease genetics,Mutation,Biomedicine,general,Human Genetics,Cancer Research,Agriculture,Gene Function,Animal Genetics and Genomics

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