Acute intermittent porphyria caused by a C?T mutation that produces a stop codon in the porphobilinogen deaminase gene

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Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression. Stany Chrétien, D Beaupain, Natacha Raich, Proceedings of the National Academy of Sciences GeneticsMolecular BiologyGene CharacterizationMolecular GeneticsSplicing Variant	1988	311
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A point mutation G—A in exon 12 of the porphoblllnogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria Bernard Grandchamp, C. Picat, Felix de Rooij, Nucleic Acids Research	1989	118
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