A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population. Issue 2 (August 2015)

• Record Type: Journal Article
• Authors: Fang, Chen; Huang, Jian; Huang, Yun; Chen, Linqi; Chen, Xiuli; Hu, Ji
• Is Part Of: Diabetes research and clinical practice. Volume 109:Issue 2(2015)
• Page Start: e5
• Page End: e7
• Publication Date: 2015-08
• Subjects: Diabetes -- Periodicals; Diabetes Mellitus -- Periodicals; 616.462
• DOI: 10.1016/j.diabres.2015.05.026
• Languages: English
• ISSNs: 0168-8227

Abstract

<abstract abstract-type="author-highlights" id="abs0005"> <title id="sect0005">Highlights</title> <sec> <p id="spar0005"> <list id="lis0005"> <list-item id="lsti0005"> <label></label> <p id="par0005">We reported a novel nonsense mutation, R54X of the hepatic nuclear factor 1α (<italic>HNF1α</italic>) gene.</p> </list-item> <list-item id="lsti0010"> <label></label> <p id="par0010">Both the two patients were sensitive to insulin and glibenclamide treatments.</p> </list-item> <list-item id="lsti0015"> <label></label> <p id="par0015">No evidence of liver adenomas was found in the abdominal ultrasonography.</p> </list-item> </list> </p> </sec> </abstract>