Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform

Hum Mutat. 2022 Sep;43(9):1344. doi: 10.1002/humu.24400.
No abstract available

Publication types

  • Published Erratum

MeSH terms

  • Alexander Disease* / genetics
  • Astrocytes / metabolism
  • Glial Fibrillary Acidic Protein / genetics
  • Humans
  • Mutation
  • Protein Isoforms / genetics
  • Protein Isoforms / metabolism
  • RNA Splicing / genetics

Substances

  • Glial Fibrillary Acidic Protein
  • Protein Isoforms