To evaluate the frequency of the ATP7B mutations in Chinese Han patients with WD, to explore genotype-phenotype correlations and to possibly unveil the pathways involved in the ATP7B deficiency, we screened 18 families with WD and inhibited the ATP7B gene expression in human liver carcinoma (HepG2) cells. Here, ATP7B is linked to hyperinsulinemic hypoglycemia, familial, 4.