Novel RET mutation produces a truncated RET receptor lacking the intracellular signaling domain in a 3-generation family with Hirschsprung disease

Clin Chem. 2005 Aug;51(8):1552-4. doi: 10.1373/clinchem.2005.051904.

Authors

Vincent C H Lui¹, Thomas Y Y Leon, Maria-Mercedes Garcia-Barceló, Raymond W Ganster, Benedict L S Chen, John M Hutson, Paul K H Tam

Affiliation

¹ Department of Surgery and Genome Research Centre, The University of Hong Kong Pokfulam, Hong Kong SAR, China.

PMID: 16040858
DOI: 10.1373/clinchem.2005.051904

No abstract available

MeSH terms

Endothelin-3 / genetics
Female
Glial Cell Line-Derived Neurotrophic Factor
Hirschsprung Disease / genetics*
Humans
Mutation
Nerve Growth Factors / genetics
Oncogene Proteins / genetics*
Pedigree
Polymorphism, Genetic
Protein Structure, Tertiary
Proto-Oncogene Proteins c-ret
Receptor Protein-Tyrosine Kinases / genetics*
Receptor, Endothelin B / genetics
Reverse Transcriptase Polymerase Chain Reaction
Signal Transduction

Substances

Endothelin-3
GDNF protein, human
Glial Cell Line-Derived Neurotrophic Factor
Nerve Growth Factors
Oncogene Proteins
Receptor, Endothelin B
Proto-Oncogene Proteins c-ret
RET protein, human
Receptor Protein-Tyrosine Kinases