Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung’s disease

@article{RuzFerrer2010NovelMA,
  title={Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung’s disease},
  author={Macarena Ru{\'i}z-Ferrer and Ana Torroglosa and Berta Luz{\'o}n-Toro and Raquel Mar{\'i}a Fern{\'a}ndez and Guillermo Anti{\~n}olo and Lois M. Mulligan and Salud Borrego},
  journal={Journal of Molecular Medicine},
  year={2010},
  volume={89},
  pages={471-480}
}
Hirschsprung disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells along variable lengths of the distal gastrointestinal tract. The major susceptibility gene for the disease is the RET proto-oncogene, which encodes a receptor tyrosine kinase activated by the glial cell-derived neurotrophic factor (GDNF) family ligands. We analyzed the coding sequence of GDNF, NTRN, and, for the first time, ARTN and PSPN in HSCR patients and detected several novel variants… 

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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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