Article
Multiple endocrine neoplasia type 2 kindred with novel tandem RET mutations: Case report with an applied in silico mutational tolerance analysis.
Head & neck - 1 Apr 2016
Joshi Rohan R, Heineman Thomas E, Kutler David I, Cohen Marc A, Kuhel William I
Abstract excerpt
BACKGROUND: The American Thyroid Association (ATA) has established guidelines for prophylactic thyroidectomy in multiple endocrine neoplasia type 2A (MEN2A) based on rearranged during transfection (RET) mutations. In silico analysis, which uses computer modeling to predict alterations in protein structure, is a new method for studying these mutations. METHODS: We describe a kindred with MEN2A, all sharing a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
