Novel mutations in the CYP7B1 gene cause hereditary spastic paraplegia

Mov Disord. 2011 Jun;26(7):1354-6. doi: 10.1002/mds.23466. Epub 2011 Mar 30.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Cytochrome P450 Family 7
  • Female
  • Humans
  • Male
  • Mutation, Missense*
  • Pedigree
  • RNA Splice Sites / genetics
  • Spastic Paraplegia, Hereditary / genetics*
  • Steroid Hydroxylases / genetics*
  • Young Adult

Substances

  • RNA Splice Sites
  • Steroid Hydroxylases
  • Cytochrome P450 Family 7
  • CYP7B1 protein, human