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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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Detalhes bibliográficos
Main Authors: Fowler, Brian, Kraus, Jan, Packman, Seymour, Rosenberg, Leon E.
Formato: Artigo
Idioma:Inglês
Publicado em: 1978
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC372577/
https://ncbi.nlm.nih.gov/pubmed/641146
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