Title : Association of multiple endocrine neoplasia type 2 and Hirschsprung disease.

Pub. Date : 1998 Jun

PMID : 9681852






3 Functional Relationships(s)
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1 In a few patients with Hirschsprung disease (HSCR) and no clinical symptoms of multiple endocrine neoplasia type 2 (MEN-2A) or medullary thyroid carcinoma (MTC), missense mutations in the cysteine residues 609 and 620 of the Ret gene have been identified. Cysteine ret proto-oncogene Homo sapiens
2 In a few patients with Hirschsprung disease (HSCR) and no clinical symptoms of multiple endocrine neoplasia type 2 (MEN-2A) or medullary thyroid carcinoma (MTC), missense mutations in the cysteine residues 609 and 620 of the Ret gene have been identified. Cysteine ret proto-oncogene Homo sapiens
3 In several pedigrees with either MEN-2A or familial MTC (FMTC) a documented germline mutation in cysteine 618 or 620 follows the segregation of the disease phenotype. Cysteine ret proto-oncogene Homo sapiens