Article
A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene.
The Journal of clinical endocrinology and metabolism - 1 Oct 1999
Tessitore A, Sinisi A A, Pasquali D, Cardone M, Vitale D, Bellastella A, Colantuoni V
Abstract excerpt
We report a novel case of multiple endocrine neoplasia type 2A (MEN 2A) associated with two mutations of the protooncogene RET. One affects codon 634 and causes a cysteine to arginine substitution; the second at codon 640 causes an alanine to glycine substitution in the transmembrane region. The two mutations were present on the same RET allele and were detected in germline and tumor DNA. Both mutations were de...
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