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A novel ATP7B gene mutation in a liver failure patient with normal ceruloplasmin and low serum alkaline phosphatase.

Gene - 15 Mar 2014

Chen Li, Li Xinhua, Zheng Zhiyong, Lu Xujiang, Lin Minghua, Pan Chen, Liu Jingfeng

Abstract excerpt

Wilson's disease (WD) is a rare disorder of copper metabolism resulting in accumulation of copper in liver and other organs. We present a liver failure patient, who was misdiagnosed for two years, with normal ceruloplasmin and low serum alkaline phosphatase. Molecular testing revealed a novel p.Ala982Thr mutation within ATP7B gene. The pathology of liver sample showed a large amount of copper deposition in the...

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PMID: 24476933
DOI: 10.1016/j.gene.2013.10.044

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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