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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...
Wedi'i Gadw mewn:
Prif Awduron: | , , , , |
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Fformat: | Artigo |
Iaith: | Inglês |
Cyhoeddwyd: |
1974
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Pynciau: | |
Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC388087/ https://ncbi.nlm.nih.gov/pubmed/4522787 |
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