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. 2001 Aug 14;69(4):712–721. doi: 10.1086/323484

Figure 2.

Figure 2

CTNS promoter mutations. The normal sequence is given for nucleotides −311 to −292. Arrows indicate the mutated bases—that is, a G→C change at position −295 in patient 1, a G→T change at position −303 in patient 2, and a T insertion after position −303 in patient 3.