Article
Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease.
Human molecular genetics - 1 Mar 1997
Reed V, Boyd Y
Abstract excerpt
Menkes' disease (MD) and occipital horn syndrome (OHS) are allelic X-linked disorders caused by mutations in the copper ion transporting ATPase, ATP7A. Genetic, phenotypic and biochemical data suggest that mottled mutants in the mouse, which range in severity and phenotype, are caused by mutations in Atp7a, the mouse homologue of ATP7A. As the only causal mutation in Atp7a has been reported in one very mild...
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