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

Chia Hsiang Chen, Kenneth H. Astrin, Grace Lee, Karl E. Anderson, Robert J. Desnick

Internal Medicine

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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

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Medicine & Life Sciences