A second leaky splice-site mutation in the spastin gene

Am J Hum Genet. 2001 Dec;69(6):1407-9. doi: 10.1086/324593.
No abstract available

Publication types

  • Letter
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenosine Triphosphatases
  • Alternative Splicing / genetics*
  • Animals
  • COS Cells
  • Calcium-Binding Proteins / genetics*
  • Calcium-Binding Proteins / metabolism
  • Chromosomes, Human, Pair 2 / genetics
  • Exons / genetics
  • Humans
  • Introns / genetics
  • Mutation / genetics*
  • Penetrance
  • Polymorphism, Genetic / genetics
  • RNA Splice Sites / genetics*
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastin
  • Tumor Cells, Cultured

Substances

  • Calcium-Binding Proteins
  • RNA Splice Sites
  • Adenosine Triphosphatases
  • Spastin
  • SPAST protein, human