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Article

Geographic distribution of ATP7B mutations in Wilson disease.

Annals of human biology - 1 Jan 2016

Gomes Amanda, Dedoussis George V

Abstract excerpt

CONTEXT: Geographic distribution of ATP7B mutations in different populations. OBJECTIVE: To summarise common mutations in the ATP7B gene and graphically illustrate their prevalence in different populations. METHODS: A literature search was done using PubMed and the Wilson Disease Mutation Database (http://www.wilsondisease.med.ualberta.ca/database). RESULTS: p.His1069Gln is the most prevalent mutation seen in...

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PMID: 26207595
DOI: 10.3109/03014460.2015.1051492

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