Heterozygous De Novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia

Ann Neurol. 2022 May;91(5):730-732. doi: 10.1002/ana.26275. Epub 2021 Dec 14.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • Heterozygote
  • Humans
  • Mutation / genetics
  • Pedigree
  • Spastic Paraplegia, Hereditary* / genetics
  • alpha Karyopherins / genetics

Substances

  • KPNA3 protein, human
  • alpha Karyopherins