Gyrate atrophy of the choroid and retina with hyperornithinemia: characterization of mutant liver L-ornithine:2-oxoacid aminotransferase kinetics.
Deficient activity of L-ornithine:2-oxoacid aminotransferase is associated with gyrate atrophy of the choroid and retina with hyperornithinemia, an autosomal recessive disease leading to blindness. Liver tissue from two patients contained trace activity of the enzyme. The Michaelis (Km) value of the...
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| Udgivet i: | J Clin Invest |
|---|---|
| Principais autores: | , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
American Society for Clinical Investigation
1981
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC370761/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7240420/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI110222 |
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