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Genetic analysis of ATP7B in 102 south Indian families with Wilson disease

6 May 2019

Abstract excerpt

Wilson disease (WD) is an autosomal recessive disorder, characterized by excessive deposition of copper in various parts of the body, mainly in the liver and brain. It is caused by mutations in ATP7B. We report here the genetic analysis of 102 WD families from a south Indian population. Thirty-six different ATP7B mutations, including 13 novel ones [p.Ala58fs*19, p.Lys74fs*9, p.Gln281*, p.Pro350fs*12, p.Ser481*,...

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PMID: 31059521
DOI: 10.1371/journal.pone.0215779

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