| First Author | Briand P | Year | 1982 |
| Journal | Biochim Biophys Acta | Volume | 704 |
| Issue | 1 | Pages | 100-6 |
| PubMed ID | 7093283 | Mgi Jnum | J:6805 |
| Mgi Id | MGI:55277 | Doi | 10.1016/0167-4838(82)90136-4 |
| Citation | Briand P, et al. (1982) Ornithine transcarbamylase deficiencies in human males. Kinetic and immunochemical classification. Biochim Biophys Acta 704(1):100-6 |
| abstractText | Enzymatic activities and kinetics of liver ornithine transcarbamylase (carbamoylphosphate:L-ornithine carbamoyltransferase) were studied in 16 human males with ornithine transcarbamylase mutations. In the same liver fragments, cross-reactive material was measured with specific anti-ornithine transcarbamylase antibody. These studies allowed us to describe five groups of mutations. Two of them were similar on the basis of their enzymatic properties and cross-reactive material amounts to two mouse ornithine transcarbamylase mutations:sparse-fur (spf) and sparse-fur with abnormal skin and hair (spf-ash). |
