Associated Papers
Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation.
Ondruskova N et al.
Journal of Inherited Metabolic Disease, 2020
Inhibitory effects of a novel Val to Thr mutation on the distal heme of human catalase.
Mashhadi Z et al.
Biochimie, 2014
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