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[DOI] [PMC free article] [PubMed] [Google Scholar] Ning Y, Dou X, Wang Z, Shi K, Wang Z, Ding C, et al
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These variants lead to impaired copper excretion from the liver into bile and defective incorporation of copper into ceruloplasmin, the protein responsible for copper transport in the blood ( The pathogenesis of hypoparathyroidism in Wilsons disease involves the toxic effects of excess copper deposition in various tissues ( Mitochondrial trifunctional protein (MTP) is a hetero-octamer composed of four - and four -subunits and carries out three distinct enzyme activities that catalyze the final chain-shortening reactions in the -oxidation of long-chain fatty acids
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