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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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| Asıl Yazarlar: | , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
1978
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC372577/ https://ncbi.nlm.nih.gov/pubmed/641146 |
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