Article
Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease.
Human molecular genetics - 1 Sept 1998
Doray B, Salomon R, Amiel J, Pelet A, Touraine R, Billaud M, Attié T, Bachy B, Munnich A, Lyonnet S
Abstract excerpt
Hirschsprung disease (HSCR) is a frequent neurocristopathy characterized by the absence of submucosal and myenteric plexuses in a variable length of the gastrointestinal tract. Pedigrees and segregation analyses suggested the involvement of one or several dominant genes with low penetrance in HSC...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA
- DNA Primers
- Drosophila Proteins
- Female
- Glial Cell Line-Derived Neurotrophic Factor
- Glial Cell Line-Derived Neurotrophic Factor Receptors
- Heterozygote
- Hirschsprung Disease
- Humans
- Ligands
- Male
- Mutation
- Nerve Growth Factors
- Nerve Tissue Proteins
- Neurturin
- Pedigree