Novel RET mutation produces a truncated RET receptor lacking the intracellular signaling domain in a 3-generation family with Hirschsprung disease

Clin Chem. 2005 Aug;51(8):1552-4. doi: 10.1373/clinchem.2005.051904.
No abstract available

MeSH terms

  • Endothelin-3 / genetics
  • Female
  • Glial Cell Line-Derived Neurotrophic Factor
  • Hirschsprung Disease / genetics*
  • Humans
  • Mutation
  • Nerve Growth Factors / genetics
  • Oncogene Proteins / genetics*
  • Pedigree
  • Polymorphism, Genetic
  • Protein Structure, Tertiary
  • Proto-Oncogene Proteins c-ret
  • Receptor Protein-Tyrosine Kinases / genetics*
  • Receptor, Endothelin B / genetics
  • Reverse Transcriptase Polymerase Chain Reaction
  • Signal Transduction

Substances

  • Endothelin-3
  • GDNF protein, human
  • Glial Cell Line-Derived Neurotrophic Factor
  • Nerve Growth Factors
  • Oncogene Proteins
  • Receptor, Endothelin B
  • Proto-Oncogene Proteins c-ret
  • RET protein, human
  • Receptor Protein-Tyrosine Kinases