Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification.

@article{Chen2013NovelSM,
  title={Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification.},
  author={Wan-Jin Chen and X Yao and Qi-Jie Zhang and Wang Ni and Jin He and Hong-fu Li and Xin-yi Liu and Gui-xian Zhao and Shen-xing Murong and Ning Wang and Zhi-ying Wu},
  journal={Gene},
  year={2013},
  volume={529 1},
  pages={159-62}
}
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 screen mutations within SLC20A2 in two IBGC families and 14 sporadic IBGC cases from… CONTINUE READING

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References

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Showing 1-10 of 18 references

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

  • G Nicolas
  • Neurology
  • 2013

Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification

  • X Dai
  • Am. J. Med. Genet. B Neuropsychiatr. Genet
  • 2010

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