Diagnostic tests for the diagnosis of copper storage disease

摘要

Methods of diagnosis of copper storage diseases are described. The methods comprise determining whether a subject has a genetic abnormality in the MURR1 gene. The methods are of particular use for the diagnosis of copper toxicosis in Bedlington terriers. Methods of providing non human animals which are neither affected by, nor carriers of, a copper storage disease are also described. Also claimed is a diet comprising a wild-type MURR1 protein.