Article
A Novel Point Mutation in the Intracellular Domain of the<i>ret</i>Protooncogene in a Family with Medullary Thyroid Carcinoma<sup>1</sup>
1 Dec 1997
Abstract excerpt
Specific mutations in the ret protooncogene have been found associated with multiple endocrine neoplasia type 2A (MEN 2A) and type 2B (MEN 2B) and familial medullary thyroid carcinoma (FMTC). Mutations in one of five cysteine residues in the extracellular domain have been found in over 95% of families with MEN 2A and 88% of families with FMTC. In MEN 2B patients, a specific mutation at codon 918, substituting a...
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