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. 2001 Apr 16;68(5):1130–1138. doi: 10.1086/320118

Figure 1.

Figure 1

Localization of all mutations identified in CPO gene. Exons are represented by rectangles and are numbered 1–7. Filled rectangles indicate protein coding, and unfilled rectangles indicate untranslated sequences. The mutations reported in this study of patients in the United Kingdom are depicted above the diagram, and the mutations reported elsewhere are depicted below the diagram (Delfau-Larue et al. 1994; Fujita et al. 1994; Martasek et al. 1994b; Lamoril et al. 1995; Daimon et al. 1997; Lamoril et al. 1997, 1998; Schreiber et al. 1997; Susa et al 1998; Doss et al. 1999; Rosipal et al. 1999). ∇ = frameshift ; ● = missense; □ = nonsense; O = splice mutation; H = harderoporphyrinogen overproduction, found in R401W and K404E mutations.