Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease

Am J Hum Genet. 1999 Apr;64(4):1216-21. doi: 10.1086/302329.
No abstract available

Publication types

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

MeSH terms

  • Alternative Splicing / genetics*
  • Amino Acid Substitution / genetics
  • Base Sequence
  • Drosophila Proteins*
  • Epistasis, Genetic
  • Exons / genetics
  • Female
  • Heterozygote
  • Hirschsprung Disease / genetics*
  • Humans
  • Male
  • Mutation, Missense / genetics*
  • Point Mutation / genetics*
  • Polymorphism, Single-Stranded Conformational
  • Proto-Oncogene Proteins / genetics*
  • Proto-Oncogene Proteins c-ret
  • RNA, Messenger / analysis
  • RNA, Messenger / genetics
  • Receptor Protein-Tyrosine Kinases / genetics*
  • Receptor, Endothelin B
  • Receptors, Endothelin / genetics*

Substances

  • Drosophila Proteins
  • Proto-Oncogene Proteins
  • RNA, Messenger
  • Receptor, Endothelin B
  • Receptors, Endothelin
  • Proto-Oncogene Proteins c-ret
  • Receptor Protein-Tyrosine Kinases
  • Ret protein, Drosophila