| First Author | Isbrandt D | Year | 1995 |
| Journal | Biochim Biophys Acta | Volume | 1264 |
| Issue | 3 | Pages | 265-7 |
| PubMed ID | 8547310 | Mgi Jnum | J:30548 |
| Mgi Id | MGI:78054 | Doi | 10.1016/0167-4781(95)00184-0 |
| Citation | Isbrandt D, et al. (1995) Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA. Biochim Biophys Acta 1264(3):265-7 |
| abstractText | In a child with severe muscular hypotonia and extrapyramidal movement disorder, elevation of guanidinoacetate and deficiency of creatine in brain suggested a defect in biosynthesis of creatine at the level of guanidinoacetate methyltransferase (GAMT) (Stockler, S. et al. (1994) Pediatr. Res. 36, 409-413). As a first step in the molecular analysis of GAMT deficiency, the cDNA for human GAMT was cloned using rat GAMT cDNA as a probe. For the coding region there is a 82.5% homology of the nucleotide sequence and 86.9% homology of the deduced amino acid sequence between human and rat. |
