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Article

Recent advance in the molecular genetics of Wilson disease and hereditary hemochromatosis.

European journal of medical genetics - 1 Oct 2016

Lv Tingxia, Li Xiaojin, Zhang Wei, Zhao Xinyan, Ou Xiaojuan, Huang Jian

Abstract excerpt

Metabolic liver diseases such as Wilson disease (WD) and hereditary hemochromatosis (HH) possess complicated pathogenesis and typical hereditary characteristics with the hallmarks of a deficiency in metal metabolism. Mutations in genes encoding ATPase, Cu + transporting, beta polypeptide (ATP7B) and hemochromatosis (HFE) or several non-HFE genes are considered to be causative for WD and HH, respectively. Although...

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Identifiers

PMID: 27592149
DOI: 10.1016/j.ejmg.2016.08.011

Genes

HFE

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