Steady-State Transcript Levels of the Porphobilinogen Deaminase Gene in Patients with Acute Intermittent Porphyria

Table 1.

Characteristics of AIP Mutations in the PBGD Gene

Mutation Exon Outcome
CRIM cDNA
517C → T 10 − R173W +
518G → A 10 + R173Q +
673C → G 12 − R225G +
673C → T 12 − R225X −
713T → G 12 − L278P −
1073delA 15 − frameshift −

  • ↵(CRIM) Cross-reactive immunologic material (Mustajoki and Desnick 1985).

  • ↵Mutation demonstrated in direct sequencing of cDNA (Kauppinen et al. 1995).

This Article

  1. Genome Res. 7: 1054-1060

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