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Article

Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.

Journal of human genetics - 1 Sept 2012

Hofer Harald, Willheim-Polli Claudia, Knoflach Peter, Gabriel Christian, Vogel Wolfgang, Trauner Michael, Müller Thomas, Ferenci Peter

Abstract excerpt

Wilson disease (WD), a disorder of copper metabolism is caused by mutations in the ATP7B gene, a copper transporting ATPase. In the present study we describe a novel mutation in exon 9 of the ATP7B gene. The ATP7B gene was analyzed for mutations by denaturing HPLC and direct sequencing. DNA from 100 healthy blood donors from the same geographic area was examined as control. Sixteen (7.4%) out of the 216 patients...

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PMID: 22763723
DOI: 10.1038/jhg.2012.65

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