Genetic profiling of Wilson disease reveals a potential recurrent pathogenic variant of ATP7B in the Jordanian population.
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DOI: 10.1002/jpn3.12446
Abstract: OBJECTIVES Wilson disease (WD) is an autosomal-recessive disorder that disrupts copper homeostasis. ATPase copper transporting beta (ATP7B) gene is implicated as the disease-causing gene in WD. The common symptoms associated with WD include hepatic, neurological,… read more here.
Keywords: genetic profiling; variant atp7b; atp7b; wilson disease ... See more keywords