Article
Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease.
Lancet (London, England) - 6 Apr 2002
Fitze Guido, Cramer Jakob, Ziegler Andreas, Schierz Mandy, Schreiber Matthias, Kuhlisch Eberhard, Roesner Dietmar, Schackert Hans K
Abstract excerpt
BACKGROUND: Several genes, including the major susceptibility gene RET, have roles in development of Hirschsprung's disease. Results of genetic-linkage analysis of patients with familial disease with both long-segment and short-segment phenotypes have shown close linkage with the RET locus. We aimed to investigate whether both RET mutations and polymorphisms contribute to phenotype of Hirschsprung's disease....
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