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Homocystinuria: EVIDENCE FOR THREE DISTINCT CLASSES OF CYSTATHIONINE β-SYNTHASE MUTANTS IN CULTURED FIBROBLASTS
We have compared in vivo pyridoxine responsiveness with in vitro cystathionine β-synthase activity in extracts of confluent fibroblasts from 14 synthase-deficient patients. Enzyme activity was measured with and without addition of its cofactor, pyridoxal-5′-phosphate, using a radioisotopic assay whi...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
1978
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC372577/ https://ncbi.nlm.nih.gov/pubmed/641146 |
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