Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease

J Med Genet. 2003 Mar;40(3):e18. doi: 10.1136/jmg.40.3.e18.
No abstract available

Publication types

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

MeSH terms

  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Drosophila Proteins*
  • Family Health
  • Female
  • Gene Frequency
  • Germ-Line Mutation*
  • Glial Cell Line-Derived Neurotrophic Factor Receptors
  • Haplotypes
  • Hirschsprung Disease / genetics*
  • Humans
  • Male
  • Membrane Glycoproteins / genetics
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins c-ret
  • Receptor Protein-Tyrosine Kinases / genetics
  • Receptors, Nerve Growth Factor / genetics

Substances

  • Drosophila Proteins
  • GFRA1 protein, human
  • GFRA2 protein, human
  • GFRA3 protein, human
  • Gfra4 protein, mouse
  • Glial Cell Line-Derived Neurotrophic Factor Receptors
  • Membrane Glycoproteins
  • Nerve Tissue Proteins
  • Proto-Oncogene Proteins
  • Receptors, Nerve Growth Factor
  • DNA
  • Proto-Oncogene Proteins c-ret
  • Receptor Protein-Tyrosine Kinases
  • Ret protein, Drosophila