Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.

@article{Pelet1998VariousMC,
  title={Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.},
  author={Anna Pelet and Olivier Geneste and Patrick Edery and Andrea Pasini and Sylvie Chappuis and Taha Atti and Arnold Munnich and Gilbert M. Lenoir and Stanislas Lyonnet and Marc Billaud},
  journal={The Journal of clinical investigation},
  year={1998},
  volume={101 6},
  pages={
          1415-23
        }
}
Hirschsprung's disease (HSCR) is a common congenital malformation characterized by the absence of intramural ganglion cells of the hindgut. Recently, mutations of the RET tyrosine kinase receptor have been identified in 50 and 15-20% of familial and sporadic HSCR, respectively. These mutations include deletion, insertion, frameshift, nonsense, and missense mutations dispersed throughout the RET coding sequence. To investigate their effects on RET function, seven HSCR missense mutations were… 

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