共 114 条
[1]
Barrett TG(1995)Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome Lancet 346 1458-1463
[2]
Bundey SE(2003)Wolfram syndrome Rev Endocr Metab Disord 4 53-59
[3]
Macleod AF(2013)Phenotypic characteristics of early Wolfram syndrome Orphanet J Rare Dis 8 64-138
[4]
Minton JA(2014)Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features PLoS One 9 e106906-1290
[5]
Rainbow LA(1989)Genetically programmed selective islet beta-cell loss in diabetic subjects with Wolfram’s syndrome Diabetes Care 12 135-2012
[6]
Ricketts C(1999)Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1 Am J Hum Genet 65 1279-148
[7]
Barrett TG(2003)Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product Hum Mol Genet 12 2003-484
[8]
Marshall BA(1998)A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome) Nat Genet 20 143-1284
[9]
Permutt MA(2001)WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain Hum Mol Genet 10 477-1170
[10]
Paciorkowski AR(2011)Wolfram syndrome 1 gene (WFS1) product localizes to secretory granules and determines granule acidification in pancreatic beta-cells Hum Mol Genet 20 1274-5640