title: Novel RET mutation produces a truncated RET receptor lacking the intracellular signaling domain in a 3-generation family with Hirschsprung disease.
authors.affiliation: Department of Surgery and Genome Research Centre, The University of Hong Kong Pokfulam, Hong Kong SAR, China.
authors.forename: Vincent C H
authors.initials: VC
authors.lastname: Lui
authors.forename: Thomas Y Y
authors.initials: TY
authors.lastname: Leon
authors.forename: Maria-Mercedes
authors.initials: MM
authors.lastname: Garcia-Barceló
authors.forename: Raymond W
authors.initials: RW
authors.lastname: Ganster
authors.forename: Benedict L S
authors.initials: BL
authors.lastname: Chen
authors.forename: John M
authors.initials: JM
authors.lastname: Hutson
authors.forename: Paul K H
authors.initials: PK
authors.lastname: Tam
mesh_terms: D019334:Endothelin-3 / Q000235:genetics; D005260:Female; D051100:Glial Cell Line-Derived Neurotrophic Factor; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009414:Nerve Growth Factors / Q000235:genetics; D015513:Oncogene Proteins / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D017434:Protein Structure, Tertiary; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D044023:Receptor, Endothelin B / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D015398:Signal Transduction
chemical_list: D019334:Endothelin-3; C495039:GDNF protein, human; D051100:Glial Cell Line-Derived Neurotrophic Factor; D009414:Nerve Growth Factors; D015513:Oncogene Proteins; D044023:Receptor, Endothelin B; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human; D020794:Receptor Protein-Tyrosine Kinases