Year |
Citation |
Score |
2011 |
Häberle J, Shchelochkov OA, Wang J, Katsonis P, Hall L, Reiss S, Eeds A, Willis A, Yadav M, Summar S, Lichtarge O, Rubio V, Wong LJ, Summar M. Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations. Human Mutation. 32: 579-89. PMID 21120950 DOI: 10.1002/Humu.21406 |
0.667 |
|
2007 |
Eeds AM, Mortlock D, Wade-Martins R, Summar ML. Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs. American Journal of Human Genetics. 80: 740-50. PMID 17357079 DOI: 10.1086/513287 |
0.689 |
|
2006 |
Eeds AM, Hall LD, Yadav M, Willis A, Summar S, Putnam A, Barr F, Summar ML. The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency. Molecular Genetics and Metabolism. 89: 80-6. PMID 16737834 DOI: 10.1016/J.Ymgme.2006.04.006 |
0.666 |
|
2004 |
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, et al. Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I. Molecular Genetics and Metabolism. 81: S12-9. PMID 15050969 DOI: 10.1016/J.Ymgme.2003.11.014 |
0.63 |
|
2003 |
Summar ML, Hall LD, Eeds AM, Hutcheson HB, Kuo AN, Willis AS, Rubio V, Arvin MK, Schofield JP, Dawson EP. Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene. Gene. 311: 51-7. PMID 12853138 DOI: 10.1016/S0378-1119(03)00528-6 |
0.644 |
|
2002 |
Spiekerkoetter U, Eeds A, Yue Z, Haines J, Strauss AW, Summar M. Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations. Human Mutation. 20: 447-51. PMID 12442268 DOI: 10.1002/Humu.10142 |
0.623 |
|
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