Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease.

  • Guido Fitze
  • Jakob Cramer
  • Andreas Ziegler
  • Mandy Schierz
  • Matthias Schreiber
  • Eberhard Kuhlisch
  • Dietmar Roesner
  • Hans K Schackert

Beteiligte Einrichtungen

Abstract

Several genes, including the major susceptibility gene RET, have roles in development of Hirschsprung's disease. Results of genetic-linkage analysis of patients with familial disease with both long-segment and short-segment phenotypes have shown close linkage with the RET locus. We aimed to investigate whether both RET mutations and polymorphisms contribute to phenotype of Hirschsprung's disease.

Bibliografische Daten

OriginalspracheDeutsch
Aufsatznummer9313
ISSN0140-6736
StatusVeröffentlicht - 2002
pubmed 11955539