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A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex.

AuthorsL Khare, G D Strizheva, J N Bailey, K S Au, H Northrup, M Smith, S L Smalley, E P Henske
JournalJournal of medical genetics (J Med Genet) Vol. 38 Issue 5 Pg. 347-9 (May 2001) ISSN: 1468-6244 [Electronic] England
PMID11403047 (Publication Type: Letter, Research Support, Non-U.S. Gov't)
Chemical References
  • GTPase-Activating Proteins
  • Repressor Proteins
  • TSC2 protein, human
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins
Topics
  • Base Sequence
  • Exons (genetics)
  • GTPase-Activating Proteins (chemistry)
  • Genes, Dominant (genetics)
  • Humans
  • Mental Disorders (genetics, physiopathology)
  • Mutation, Missense (genetics)
  • Polymorphism, Single-Stranded Conformational
  • Repressor Proteins (chemistry, genetics)
  • Sequence Homology
  • Tuberous Sclerosis (genetics, physiopathology)
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins

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