Article
Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC:s.
Human molecular genetics - 1 Aug 1994
Zedenius J, Wallin G, Hamberger B, Nordenskjöld M, Weber G, Larsson C
Abstract excerpt
Since germline mutations in the RET proto-oncogene (RET) predisposing to tumor development in Familial Medullary Thyroid Carcinoma (FMTC), Multiple endocrine neoplasia type 2A (MEN 2A), and Multiple endocrine neoplasia type 2B (MEN 2B) were reported, it has become possible to identify gene carriers with a very high degree of accuracy. Mutations in FMTC and MEN 2A exclusively affect cysteine residues in exon 10...
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