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Scheme of the ATP7B gene with common mutations. For the promoter region, most relevant elements and transcription factor binding sites are depicted, as described in Oh et al. [69]. Abbreviations: MRE, metal response element; MLS, MRE-like sequence; MBD, metal binding domain; TM, transmembrane domain; A-domain, actuator domain; P-domain, phosphorylation domain; N-domain, nucleotide binding domain; aa, amino acids; bp, base pairs.
