Article
Low frequency of RET mutations in Hirschsprung disease in Sweden.
Clinical genetics - 1 Jul 1998
Svensson P J, Molander M L, Eng C, Anvret M, Nordenskjöld A
Abstract excerpt
Hirschsprung disease is a congenital malformation, where absence of intramural ganglia in the hindgut results in a defect in the coordination of peristaltic movement. This leads to ileus in the newborn or, more often, constipation in children and adults. The disease affects one in 5000 live birth...
Topics
- DNA Mutational Analysis
- Drosophila Proteins
- Gene Frequency
- Genetic Predisposition to Disease
- Hirschsprung Disease
- Humans
- Infant
- Infant, Newborn
- Mutation
- Polymorphism, Single-Stranded Conformational
- Prospective Studies
- Proto-Oncogene Mas
- Proto-Oncogene Proteins
- Proto-Oncogene Proteins c-ret
- Receptor Protein-Tyrosine Kinases
- Sweden