Article
Novel point mutation in exon 10 of the RET proto-oncogene in a family with medullary thyroid carcinoma.
American journal of medical genetics - 7 Jul 1998
Oriola J, Páramo C, Halperin I, García-Mayor R V, Rivera-Fillat F
Abstract excerpt
Medullary thyroid carcinoma (MTC) may occur sporadically or as part of the autosomal dominant multiple endocrine neoplasia type 2 (MEN 2). Three hereditary forms of MEN 2 have been identified: MEN 2A, MEN 2B, and familial MTC (FMTC). Missense germ-line mutations in the RET proto-oncogene have been identified as cause of these endocrine diseases. Mutations are found in exons 10 and 11 in MEN 2A and FMTC families...
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