Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination

J Med Genet. 2000 Nov;37(11):877-83. doi: 10.1136/jmg.37.11.877.
No abstract available

Publication types

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

MeSH terms

  • Alu Elements / genetics*
  • Base Sequence
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Humans
  • Molecular Sequence Data
  • Polymerase Chain Reaction / methods*
  • Recombination, Genetic*
  • Repressor Proteins / genetics*
  • Sequence Deletion*
  • Tuberous Sclerosis / genetics
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins

Substances

  • Repressor Proteins
  • TSC2 protein, human
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins
  • DNA