Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs. Eeds AM, Mortlock D, Wade-Martins R, Summar ML (2007) Am J Hum Genet 80: 740-50 Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function. Summar ML, Gainer JV, Pretorius M, Malave H, Harris S, Hall LD, Weisberg A, Vaughan DE, Christman BW, Brown NJ (2004) Hypertension 43: 186-91 Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases. Mitchell S, Ellingson C, Coyne T, Hall L, Neill M, Christian N, Higham C, Dobrowolski SF, Tuchman M, Summar M, Urea Cycle Disorder Consortium (2009) Hum Mutat 30: 56-60 Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study. Canter JA, Summar ML, Smith HB, Rice GD, Hall LD, Ritchie MD, Motsinger AA, Christian KG, Drinkwater DC, Scholl FG, Dyer KL, Kavanaugh-McHugh AL, Barr FE (2007) Mitochondrion 7: 204-10 Epithelial VEGF signaling is required in the mouse liver for proper sinusoid endothelial cell identity and hepatocyte zonation in vivo. Walter TJ, Cast AE, Huppert KA, Huppert SS (2014) Am J Physiol Gastrointest Liver Physiol 306: G849-62 The hemochromatosis C282Y allele: a risk factor for hepatic veno-occlusive disease after hematopoietic stem cell transplantation. Kallianpur AR, Hall LD, Yadav M, Byrne DW, Speroff T, Dittus RS, Haines JL, Christman BW, Summar ML (2005) Bone Marrow Transplant 35: 1155-64 Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I. Summar ML, Hall L, Christman B, Barr F, Smith H, Kallianpur A, Brown N, Yadav M, Willis A, Eeds A, Cermak E, Summar S, Wilson A, Arvin M, Putnam A, Wills M, Cunningham G (2004) Mol Genet Metab 81 Suppl 1: S12-9 The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency. Eeds AM, Hall LD, Yadav M, Willis A, Summar S, Putnam A, Barr F, Summar ML (2006) Mol Genet Metab 89: 80-6 Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene. Summar ML, Hall LD, Eeds AM, Hutcheson HB, Kuo AN, Willis AS, Rubio V, Arvin MK, Schofield JP, Dawson EP (2003) Gene 311: 51-7
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