Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia

Clin Genet. 2014 Nov;86(5):500-1. doi: 10.1111/cge.12312. Epub 2013 Nov 27.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Base Sequence
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Exome / genetics
  • Family
  • Homozygote
  • Humans
  • Middle Aged
  • Molecular Sequence Data
  • Mutation / genetics*
  • N-Acetylgalactosaminyltransferases / genetics*
  • Spastic Paraplegia, Hereditary / genetics*

Substances

  • N-Acetylgalactosaminyltransferases
  • B4galnt1 protein, human