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

Ruiz-Ferrer, Macarena

Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease. [electronic resource] - Journal of molecular medicine (Berlin, Germany) May 2011 - 471-80 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1432-1440

10.1007/s00109-010-0714-2 doi


Cell Line
Enteric Nervous System--metabolism
Female
Glial Cell Line-Derived Neurotrophic Factor--genetics
Hirschsprung Disease--genetics
Humans
Immunohistochemistry
Male
Mutation
Nerve Tissue Proteins--genetics
Neural Crest--cytology
Neurturin--genetics
Phosphorylation
Proto-Oncogene Mas
Proto-Oncogene Proteins c-ret--genetics
Reverse Transcriptase Polymerase Chain Reaction