Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate.
Author:
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Cited by 51 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. The Porphyrias;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2015
2. A proteomics approach to detect tissue-wide adaptive changes in the pancreas associated with increased pancreatic α-amylase activity in domestic cattle (Bos taurus);Comparative Biochemistry and Physiology Part D: Genomics and Proteomics;2013-03
3. Dual porphyria in double heterozygotes with porphobilinogen deaminase and uroporphyrinogen decarboxylase deficiencies;Clinical Genetics;2008-06-28
4. The Porphyrias;Zakim and Boyer's Hepatology;2006
5. Characterization of two isoalleles and three mutations in both isoforms of purified recombinant human porphobilinogen deaminase;Scandinavian Journal of Clinical and Laboratory Investigation;2005-04
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