Article
INS-gene mutations: from genetics and beta cell biology to clinical disease.
Molecular aspects of medicine - 1 Apr 2015
Liu Ming, Sun Jinhong, Cui Jinqiu, Chen Wei, Guo Huan, Barbetti Fabrizio, Arvan Peter
Abstract excerpt
A growing list of insulin gene mutations causing a new form of monogenic diabetes has drawn increasing attention over the past seven years. The mutations have been identified in the untranslated regions of the insulin gene as well as the coding sequence of preproinsulin including within the signal peptide, insulin B-chain, C-peptide, insulin A-chain, and the proteolytic cleavage sites both for signal peptidase...
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