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A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.

Gene - 1 Feb 2013

Dastsooz Hassan, Dehghani Seyed Mohsen, Imanieh Mohammad Hadi, Haghighat Mahmood, Moini Maryam, Fardaei Majid

Abstract excerpt

Wilson disease is associated with a defect in copper metabolism and caused by different mutations in ATP7B gene. The aim of this study was to determine mutation frequency of ATP7B exons 8 and 14 in Wilson disease patients from the south of Iran. The exons 8 and 14 of ATP7B gene were analyzed in 65 unrelated Wilson disease patients by Denaturing High Performance Liquid Chromatography, and samples with abnormal...

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PMID: 23159873
DOI: 10.1016/j.gene.2012.10.085

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