Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis

N Engl J Med. 1999 Mar 4;340(9):703-7. doi: 10.1056/NEJM199903043400905.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Diagnostic Errors
  • Female
  • Heteroduplex Analysis
  • Humans
  • Leukocytes
  • Male
  • Mosaicism / diagnosis*
  • Mutation
  • Polymerase Chain Reaction
  • Proteins / genetics*
  • Sequence Analysis
  • Tuberous Sclerosis / diagnosis
  • Tuberous Sclerosis / genetics*
  • Tuberous Sclerosis Complex 1 Protein
  • Tumor Suppressor Proteins

Substances

  • Proteins
  • Tuberous Sclerosis Complex 1 Protein
  • Tumor Suppressor Proteins