Article
Novel mutations of RET gene in Korean patients with sporadic Hirschsprung's disease.
Journal of pediatric surgery - 1 Jul 2006
Kim Jeong-Hyun, Yoon Kyong-Oh, Kim Jeong-Kook, Kim Jong-Won, Lee Suk-Koo, Kong Sun-Young, Seo Jeong-Meen
Abstract excerpt
BACKGROUND/PURPOSE: Hirschsprung's disease (HSCR) is a congenital abnormality that can cause an intestinal obstruction. Although HSCR demonstrates a sex-modified polygenic inheritance with contributions from multiple genes, mutations in the RET gene are believed to be the major sign of susceptibility in the development of disease. The allele frequency of polymorphisms was mostly tested in the American and...
Topics
- Asian People
- DNA
- Haplotypes
- Hirschsprung Disease
- Humans
- Mutation
- Proto-Oncogene Proteins c-ret