Molecular Genetics of Porphyries
- 1 January 1990
- journal article
- review article
- Published by Taylor & Francis in Annals of Medicine
- Vol. 22 (6) , 387-391
- https://doi.org/10.3109/07853899009147275
Abstract
No abstract availableKeywords
This publication has 18 references indexed in Scilit:
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- Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminaseEuropean Journal of Clinical Investigation, 1989
- A point mutation G—A in exon 12 of the porphoblllnogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyriaNucleic Acids Research, 1989
- Tissue-specific splicing mutation in acute intermittent porphyria.Proceedings of the National Academy of Sciences, 1989
- Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression.Proceedings of the National Academy of Sciences, 1988
- DNA POLYMORPHISM OF HUMAN PORPHOBILINOGEN DEAMINASE GENE IN ACUTE INTERMITTENT PORPHYRIAThe Lancet, 1987
- A PstI polymorphism for the human porphobilinogen deaminase gene (PBG)Nucleic Acids Research, 1987
- Tissue‐specific expression of porphobilinogen deaminaseEuropean Journal of Biochemistry, 1987
- 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, 1985
- Normal Erythrocyte Uroporphyrinogen I Synthase in a Kindred with Acute Intermittent PorphyriaAnnals of Internal Medicine, 1981