Article
Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease.
Journal of medical genetics - 1 Sept 1997
Masson W, Hughes H, Papworth D, Boyd Y, Horn N
Abstract excerpt
Menkes disease (MD) is caused by a defect in copper homeostasis and has a recognised mouse model, mottled (Atp7aMo). Copper uptake and retention assays performed on fibroblast cultures have been used successfully for pre- and postnatal diagnosis of Menkes disease. We report here the results of these assays applied to primary fibroblast cultures established from nine independent mottled alleles associated with...
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