Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes.

作者：Emma L. Edghill, Shihab Hameed, Charles F. Verge, Oscar Rubio‐Cabezas, Jesús Argente, Zdenĕk Šumnı́k, Petra Dušátková, Simon T. Cliffe, Raoul C. M. Hennekam, Michael Francis Buckley, Khalid Hussain, Sian Ellard, Andrew T. Attersley · 发表于：PubMed · 年份：2009 · 被引用次数：4 · 研究领域：Pancreatic function and diabetes、Diabetes and associated disorders、Metabolism, Diabetes, and Cancer

mutations. The most common feature in all but two cases is pigmented hypertrichosis. Hyperglycaemia is an overlapping feature of the two syndromes although it is much rarer in the H syndrome where it is present in 1/15 subjects [1, 3] compared to 5/6 subjects with PHID [2, 4, 5]. The median age of diagnosis for diabetes was 12 years (range: 4-15 years), all patients were insulin treated with only 1/5 testing positive for GAD autoantibodies. It is not known if milder mutations in the