Article
[Detection of a non-standard mutation in the ret protoncogene by site directed mutagenesis].
Medicina - 1 Jan 2005
Real Sebastián, Gómez Laura, Perinetti Héctor, Mayorga Luis S, Pusiol Eduardo, Roqué María
Abstract excerpt
MEN2A is an autosomic dominant disease, characterized by medullary thyroid cancer, pheochromocytoma and parathyroid hyperplasia. Mutations in the ret proto-oncogene are associated with this disease, with almost 100% of penetrance. The gene, situated on chromosome 10q11.2, codes for a transmembrane protein with a tyrosinkinase-like receptor function. Mutations that affect its extracellular domain, stimulate...
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