SPG4-related hereditary spastic paraplegia: frequency and mutation spectrum in Brazil

Clin Genet. 2014 Aug;86(2):194-6. doi: 10.1111/cge.12252. Epub 2013 Sep 5.
No abstract available

Publication types

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

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Base Sequence
  • Brazil
  • DNA Mutational Analysis
  • Exons / genetics
  • Family
  • Genes, Dominant
  • Humans
  • Molecular Sequence Data
  • Mutation / genetics*
  • Mutation Rate*
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastin

Substances

  • Adenosine Triphosphatases
  • Spastin
  • SPAST protein, human