Genetic studies discover novel coding and non-coding mutations in patients with Wilson's disease in China.
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DOI: 10.1002/jcla.24459
Abstract: OBJECTIVES Wilson disease (WD) is a rare autosomal recessive genetic disorder associated with various mutations in the ATP7B gene and leads to significant disability or death if untreated. Early diagnosis and proper therapy usually predict… read more here.
Keywords: atp7b gene; studies discover; genetic studies; wilson disease ... See more keywords