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  • Diverse Functional Properties of Wilson Disease ATP7B Variants
    [作者:Huster, D; Kuhne, A; Bhattacharjee, A; Raines, L; Jantsch, V; Noe, J; Schirrmeister, W; Sommerer, I; Sabri, O; Berr, F; Mossner, J; Stieger, B; Caca, K; Lutsenko, S,期刊:Gastroenterology, 页码:947-U429 , 文章类型: Article,,卷期:2012年142-4]
  • BACKGROUND & AIMS: Wilson disease is a severe disorder of copper metabolism caused by mutations in ATP7B, which encodes a copper-transporting adenosine triphosphatase. The disease presents with a variable phenotype that ...