Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease

BACKGROUND: Mutations in the gene ATP7B cause Wilson disease, a copper storage disorder with a high phenotypic and genetic heterogeneity. We aimed to evaluate whether 'severe' protein-truncating ATP7B mutations (SMs) are associated with low serum ceruloplasmin oxidase activities and an ear...

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Detalles Bibliográficos
Autores principales: Merle, Uta, Weiss, Karl Heinz, Eisenbach, Christoph, Tuma, Sabine, Ferenci, Peter, Stremmel, Wolfgang
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2845088/
https://www.ncbi.nlm.nih.gov/pubmed/20082719
http://dx.doi.org/10.1186/1471-230X-10-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2845088/
https://www.ncbi.nlm.nih.gov/pubmed/20082719
http://dx.doi.org/10.1186/1471-230X-10-8

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