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A Microassay for Uroporphyrinogen I Synthase, One of Three Abnormal Enzyme Activities in Acute Intermittent Porphyria, and its Application to the Study of the Genetics of this Disease

A new spectrofluorometric assay is described for quantitating uroporphyrinogen I synthase (EC 4.3.1.8) activity in volumes of human blood as small as 2 μl. By this sensitive assay the inheritance of the enzyme's activity has been studied and the genetic defect for acute intermittent porphyria h...

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Detalhes bibliográficos
Main Authors: Sassa, S., Granick, S., Bickers, D. R., Bradlow, H. L., Kappas, A.
Formato: Artigo
Idioma:Inglês
Publicado em: 1974
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC388087/
https://ncbi.nlm.nih.gov/pubmed/4522787
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