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. 1990 Oct;85(6):631-4.
doi: 10.1007/BF00193588.

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

G A Scobie  1 , D H Llewellyn, A J Urquhart, S J Smyth, N A Kalsheker, P R Harrison, G H Elder
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Acute intermittent porphyria caused by a C----T mutation that produces a stop codon in the porphobilinogen deaminase gene

G A Scobie et al. Hum Genet. 1990 Oct.

Abstract

A mutation of the porphobilinogen (PBG) deaminase gene that produces the cross-reacting immunological material (CRIM)-negative type of acute intermittent porphyria (AIP) has been identified in one of 43 unrelated patients with this form of the disorder. The mutation is a C----T transition that abolishes a PstI recognition site in exon 9 of the gene and converts a codon for glutamine to a stop codon.

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