Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency.
We used complementation analysis as a probe for the detection of genetic heterogeneity within a single locus affected in a human disease, argininosuccinate lyase (L-argininosuccinate arginine-lyase, EC 4.3.2.1) deficiency. Fibroblasts cultured from 28 unrelated patients were fused in all possible pa...
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| Veröffentlicht in: | Proc Natl Acad Sci U S A |
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| Hauptverfasser: | , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
National Academy of Sciences
1984
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| Schlagworte: | |
| Online-Zugang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC345614/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/6589607/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.81.14.4480 |
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