Table 1.

Characteristics of AIP Mutations in the PBGD Gene

Mutation Exon Outcome
CRIM[i] cDNA[ii]
517C → T10−R173W+
518G → A10+R173Q+
673C → G12−R225G+
673C → T12−R225X−
713T → G12−L278P−
1073delA15−frameshift−

[i] (CRIM) Cross-reactive immunologic material (Mustajoki and Desnick 1985).

[ii] Mutation demonstrated in direct sequencing of cDNA (Kauppinen et al. 1995).