Results (
Indonesian) 1:
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The affected gene is UROS gene (BTA 26). This gene encodesthe enzyme uroporphyrinogen III synthase33. Clinically, themost prominent lesion is photosensitization, which may causesubepidermal blistering and dermal necrosis of unpigmentedareas. These lesions are produced because of the photodynamicproperties of the porphyrins deposited in the skin. Theseporphyrins absorb energy when exposed to ultraviolet light andbecome unstable. A typical lesion of CEP is diffuse systemicbrown discoloration of bones and teeth
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