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Presumed missense and synonymous mutations in ATP 7B gene cause exon skipping in Wilson disease

11 Apr 2018

Abstract excerpt

BACKGROUND & AIMS: Wilson disease is an inborn error of metabolism caused by abnormalities of the copper-transporting protein-encoding gene ATP7B. Recently, the phenomenon of exon skipping, in which exonic mutations result in abnormal splicing, has been associated with various diseases. The present study investigated the splicing defects of the ATP7B exonic variants identified in a cohort of 44 patients with...

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PMID: 29637721
DOI: 10.1111/liv.13754

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