摘要 |
<p>Abstract of the Disclosure Isolated polynucleotide molecules and peptides encoded by these molecules are used in the analysis of human carbamyl phosphate synthetase I phenotypes, as well as in diagnostic and therapeutic applications, relating to a 5 human carbamyl phosphate synthetase I polymorphism. By analyzing genomic DNA or amplified genomic DNA, or amplified cDNA derived from mRNA, it is possible to type a human carbamyl phosphate synthetase I with regard to the human carbamyl phosphate synthetase I polymorphism, for example, in the context of diagnosing and treating hepatic veno-occlusive disease (HVOD) 10 associated with bone marrow transplants. 3454000_1 (GHMoter) P01593AU2 LMfOchondno HO3+NH4+2AT CPSI 0 0 N-ac tyilutarnate cAc" Phshte Aspartic OmithineArginosuccinote ARGinn ASL Urea Fumorote FIG, I $1 .0 4f ADP ox Ph sI ot Carbaoy Phosphate FIG, 2</p> |