Article
Mutations of the RET proto-oncogene in Hirschsprung's disease.
Nature - 27 Jan 1994
Edery P, Lyonnet S, Mulligan L M, Pelet A, Dow E, Abel L, Holder S, Nihoul-Fékété C, Ponder B A, Munnich A
Abstract excerpt
Hirschsprung's disease (HSCR) is a common condition (1 in 5,000 live births) resulting in intestinal obstruction in neonates and megacolon in infants and adults. This disease has been ascribed to the absence of autonomic ganglion cells, which are derived from the neural crest, in the terminal hindgut. Segregation analyses have suggested incompletely penetrant dominant inheritance in familial HSCR. Recently, a...
Topics
- Base Sequence
- Chromosomes, Human, Pair 10
- DNA Primers
- Drosophila Proteins
- Female
- Genetic Linkage
- Germ-Line Mutation
- Hirschsprung Disease
- Humans
- Male
- Molecular Sequence Data