Novel SLC20A2 mutation in a Japanese pedigree with primary familial brain calcification

J Neurol Sci. 2019 Apr 15:399:183-185. doi: 10.1016/j.jns.2019.02.033. Epub 2019 Feb 23.
No abstract available

Keywords: CYP2C19; Exome sequencing; Ischemic stroke; Primary familial brain calcification; SLC20A2.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Aged
  • Brain Diseases / diagnostic imaging
  • Brain Diseases / genetics*
  • Calcinosis / diagnostic imaging
  • Calcinosis / genetics*
  • Female
  • Humans
  • Japan
  • Mutation*
  • Pedigree
  • Sodium-Phosphate Cotransporter Proteins, Type III / genetics*

Substances

  • SLC20A2 protein, human
  • Sodium-Phosphate Cotransporter Proteins, Type III