Citrullinemia, argininosuccinate synthetase deficiency
- 1 January 1977
- journal article
- research article
- Published by S. Karger AG in Cytogenetic and Genome Research
- Vol. 19 (1) , 51-52
- https://doi.org/10.1159/000130796
Abstract
Skin fibroblasts were established from an 8 mo. old male with citrullinemia. Argininosuccinate synthetase (EC 6.3.4.5) was measured in cultured skin fibroblast lysates by the methods of Spector et al. and Kennaway et al. A lymphoid cell culture, GM-1204, was also established from the patient NC091274. Both the fibroblast cell GM-1044 and the lymphoid culture GM-1204 are stored in the Human Genetic Mutant Cell Repository.Keywords
This publication has 1 reference indexed in Scilit:
- Citrulline metabolism in normal and citrullinemic human lymphocyte linesBiochemical Genetics, 1975