DOI: 10.1172/jci112044. Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate.

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

10.1172/jci112044

Crossref journal-article

American Society for Clinical Investigation

Journal of Clinical Investigation (232)

Bibliography

Desnick, R. J., Ostasiewicz, L. T., Tishler, P. A., & Mustajoki, P. (1985). Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate. Journal of Clinical Investigation, 76(2), 865â874.

Authors 4

R J Desnick (first)
L T Ostasiewicz (additional)
P A Tishler (additional)
P Mustajoki (additional)

References 0 Referenced 38

None

Dates

Type	When
Created	17 years, 6 months ago (Feb. 28, 2008, 2:38 p.m.)
Deposited	2 years, 1 month ago (Aug. 3, 2023, 12:44 p.m.)
Indexed	16 hours, 3 minutes ago (Sept. 4, 2025, 9:10 a.m.)
Issued	40 years, 1 month ago (Aug. 1, 1985)
Published	40 years, 1 month ago (Aug. 1, 1985)
Published Print	40 years, 1 month ago (Aug. 1, 1985)

Funders 0

None

BibTeX

@article{Desnick_1985, title={Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate.}, volume={76}, ISSN={0021-9738}, url={http://dx.doi.org/10.1172/jci112044}, DOI={10.1172/jci112044}, number={2}, journal={Journal of Clinical Investigation}, publisher={American Society for Clinical Investigation}, author={Desnick, R J and Ostasiewicz, L T and Tishler, P A and Mustajoki, P}, year={1985}, month=aug, pages={865–874} }

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