Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease.
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Abstract
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.
Bibliographical data
| Original language | German |
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| Article number | 9313 |
| ISSN | 0140-6736 |
| Publication status | Published - 2002 |
| pubmed | 11955539 |
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