Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities
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DOI: 10.1155/humu/7485658
Abstract: Wilson disease is a disorder of copper (Cu) homeostasis caused by the malfunction of Cu transporter ATP7B and associated Cu accumulation in tissues. The existence of over 700 disease-associated variants in the ATP7B gene and… read more here.
Keywords: disease; atp7b variants; transport activities; atp7b ... See more keywords