Clinical and Biochemical Characteristics and Genotype-Phenotype Correlation in 143 Finnish and Russian Patients With Acute Intermittent Porphyria
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference43 articles.
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3. Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme.;Chen;J Clin Invest,1994
4. Alternative transcription and splicing of the human porphobilinogen deaminase result either in tissue-specific or in house-keeping expression.;Chretien;Proc Natl Acad Sci U S A,1988
5. Acute intermittent potphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermidiates stabilized by bound substrate.;Desnick;J Clin Invest,1985
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