Article
Functional analyses of RET mutations in Chinese Hirschsprung disease patients.
Birth defects research. Part A, Clinical and molecular teratology - 1 Jan 2012
Leon Thomas Y Y, So Man-Ting, Lui Vincent C H, Hofstra Robert M W, Tam Paul K H, Ngan Elly S W, Garcia-Barceló Maria-Mercè
Abstract excerpt
BACKGROUND: Hirschsprung disease (HSCR) is a congenital disease characterized by the absence of ganglion cells in various length of distal digestive tract. The rearranged during transfection gene (RET) is considered the major gene in HSCR. Although an increasing number of HSCR-associated RET coding sequence (CDS) mutations have been identified in recent years, not many have been investigated for functional...
Topics
- Asian People
- Cell Line, Tumor
- Female
- Hirschsprung Disease
- Humans
- Male
- Mutation
- Penetrance
- Proto-Oncogene Proteins c-ret