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

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

<p>Abstract</p> <p>Background</p> <p>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 wit...

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Bibliographic Details
Main Authors: Tuma Sabine, Eisenbach Christoph, Weiss Karl, Merle Uta, Ferenci Peter, Stremmel Wolfgang
Format: Article
Language:English
Published: BMC 2010-01-01
Series:BMC Gastroenterology
Online Access:http://www.biomedcentral.com/1471-230X/10/8

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