Article
[The molecular pathology of RET protooncogene in families with multiple endocrine neoplasia type 2A].
Medicina clinica - 21 Sept 1996
Biarnés J, Miranda M, Corral J, Gabau E, Matías-Guiu X, Matilla A, Soler J, Estivill X, Volpini V
Abstract excerpt
BACKGROUND: Multiple endocrine neoplasm type 2A (MEN 2A) is an autosomal dominantly inherited disease characterized by medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. Mutations have been identified in the extracellular domain of the RET proto-oncogen product (10q11.2) in MEN 2A patients. In each case a single base pair substitution results in replacement of cysteine with another amino acid....
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