Diverse Functional Properties of Wilson Disease ATP7B Variants

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 complicates the diagnostic process and treatment. Little is known about the...

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Detalhes bibliográficos
Main Authors: Huster, Dominik, Kühne, Angelika, Bhattacharjee, Ashima, Raines, Lily, Jantsch, Vanessa, Noe, Johannes, Schirrmeister, Wiebke, Sommerer, Ines, Sabri, Osama, Berr, Frieder, Mössner, Joachim, Stieger, Bruno, Caca, Karel, Lutsenko, Svetlana
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3461965/
https://ncbi.nlm.nih.gov/pubmed/22240481
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1053/j.gastro.2011.12.048
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