Article
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.
Human molecular genetics - 1 May 1995
Angrist M, Bolk S, Thiel B, Puffenberger E G, Hofstra R M, Buys C H, Cass D T, Chakravarti A
Abstract excerpt
Hirschsprung disease (HSCR), or congenital aganglionic megacolon, is the most common cause of congenital bowel obstruction with an incidence of 1 in 5000 live births. Recently, linkage of an incompletely penetrant, dominant form of HSCR was reported, followed by identification of mutations in the...
Topics
- Base Sequence
- DNA
- DNA Mutational Analysis
- Drosophila Proteins
- Exons
- Female
- Genotype
- Hirschsprung Disease
- Humans
- Male
- Molecular Sequence Data
- Multiple Endocrine Neoplasia Type 2a
- Mutation
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Proto-Oncogene Proteins