Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation

J Neurol Neurosurg Psychiatry. 2010 Mar;81(3):350-2. doi: 10.1136/jnnp.2009.179689.
No abstract available

Publication types

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

MeSH terms

  • Alleles
  • Child
  • Child, Preschool
  • Codon / genetics
  • DNA Mutational Analysis*
  • Exons / genetics
  • Humans
  • Introns / genetics
  • Male
  • Mutagenesis, Insertional / genetics
  • Pedigree
  • Phenotype*
  • RNA Splice Sites / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Tuberous Sclerosis / diagnosis
  • Tuberous Sclerosis / genetics*
  • Tuberous Sclerosis Complex 1 Protein
  • Tumor Suppressor Proteins / genetics*

Substances

  • Codon
  • RNA Splice Sites
  • TSC1 protein, human
  • Tuberous Sclerosis Complex 1 Protein
  • Tumor Suppressor Proteins