Characterization of the Porphobilinogen Deaminase Deficiency in Acute Intermittent Porphyria

The molecular pathology of the porphobilinogen (PBG)-deaminase deficiency in heterozygotes for acute intermittent porphyria (AIP) was investigated by means of biochemical and immunologic techniques. The stable enzyme-substrate intermediates (A, B, C, D, and E) of PBG-deaminase were separated by anio...

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Vydáno v:	J Clin Invest
Hlavní autoři:	Anderson, Peter M., Reddy, Raman M., Anderson, Karl E., Desnick, Robert J.
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	American Society for Clinical Investigation 1981
Témata:	Articles
On-line přístup:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC370766/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7251856/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI110223
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