Disease‐causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene - Jang, Yoon J.; LaBella, Abigail L.; Feeney, Timothy P.; Braverman, Nancy; Tuchman, Mendel; Morizono, Hiroki; Ah Mew, Nicholas; Caldovic, Ljubica (Human mutation, 2018)
Keywords: Binding sites; Binding Sites - genetics; Citrulline; Conserved sequence; Deoxyribonucleic acid; DNA; Enhancer Elements, Genetic; enhancer mutation; Gene expression; gene expression gene regulation; Gene Expression Regulation; Hepatocyte Nuclear Factor 4 - metabolism; Humans; hyperammonemia; Inborn errors of metabolism; Male; Mutation; Ornithine; Ornithine - metabolism; Ornithine Carbamoyltransferase Deficiency Disease - genetics; ornithine transcarbamylase; ornithine transcarbamylase deficiency; promoter mutation; Promoter Regions, Genetic; Prospective Studies; Regulatory sequences; Reporter gene; Retrospective Studies; Splice junctions; Urea; urea cycle; ornithine transcarbamylase deficiency; enhancer mutation; hyperammonemia; ornithine transcarbamylase; promoter mutation; urea cycle; gene expression gene regulation