Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate.

To investigate the molecular pathology in acute intermittent porphyria (AIP), the nature of the defective porphobilinogen (PBG)-deaminase was determined in erythrocyte lysates from 165 AIP heterozygotes from 92 unrelated families representing 20 different ethnic or demographic groups. Immunologic an...

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Veröffentlicht in:J Clin Invest
Hauptverfasser: Desnick, R J, Ostasiewicz, L T, Tishler, P A, Mustajoki, P
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 1985
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC423920/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3897290/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI112044
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