Article
Frequency of RET mutations in long- and short-segment Hirschsprung disease.
Human mutation - 1 Jan 1997
Seri M, Yin L, Barone V, Bolino A, Celli I, Bocciardi R, Pasini B, Ceccherini I, Lerone M, Kristoffersson U, Larsson L T, Casasa J M, Cass D T, Abramowicz M J, Vanderwinden J M, Kravcenkiene I, Baric I, Silengo M, Martucciello G, Romeo G
Abstract excerpt
Hirschsprung disease, or congenital aganglionic megacolon, is a genetic disorder of neural crest development affecting 1:5,000 newborns. Mutations in the RET proto-oncogene, repeatedly identified in the heterozygous state in both long- and short-segment Hirschsprung patients, lead to loss of both transforming and differentiating capacities of the activated RET through a dominant negative effect when expressed in...
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