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Hereditary Orotic Aciduria: Evidence for a Structural Gene Mutation
Orotic aciduria is a rare autosomal recessive disease in man due to a deficiency of orotate phosphoribosyltransferase (EC 2.4.2.10; orotidine-5′-phosphate:pyrophosphate phosphoribosyltransferase) and orotidine-5′-phosphate decarboxylase (EC 4.1.1.23; orotidine-5′-phosphate carboxy-lyase). We have co...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
1974
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC388614/ https://ncbi.nlm.nih.gov/pubmed/4528586 |
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