Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene.
Argininemia results from a deficiency of arginase (EC 3.5.3.1), the last enzyme of the urea cycle in the liver. We examined the molecular basis for argininemia by constructing a genomic library followed by cloning and DNA sequencing. Discrete mutations were found on two alleles from the patient, a p...
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| Publicado en: | J Clin Invest |
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| Autores principales: | , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
American Society for Clinical Investigation
1990
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296728/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2365823/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114707 |
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