Novel RET mutation produces a truncated RET receptor lacking the intracellular signaling domain in a 3-generation family with Hirschsprung disease.
Lui
Vincent C H
VC
Department of Surgery and Genome Research Centre, The University of Hong Kong Pokfulam, Hong Kong SAR, China.
Leon
Thomas Y Y
TY
Garcia-Barceló
Maria-Mercedes
MM
Ganster
Raymond W
RW
Chen
Benedict L S
BL
Hutson
John M
JM
Tam
Paul K H
PK
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
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