Diane W. Cox

The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene

Peter C. Bull, Gordon R. Thomas, Johanna M. Rommens et al. · Nature Genetics · 1993 · 1.9K citations

Wilson Disease Gene, Genetics, Pathogenesis +7

The Wilson disease gene: spectrum of mutations and their consequences

Gordon R. Thomas, John Forbes, Eve A. Roberts et al. · Nature Genetics · 1995 · 571 citations

Rare Diseases, Mendelian Disorder, Disease Mechanism +11

The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene

Jingshi Wu, John Forbes, Hai Shiene Chen et al. · Nature Genetics · 1994 · 385 citations

Molecular Physiology, Biochemistry, Mitochondrial Function +10

<i>In vivo</i> reduction of amyloid-β by a mutant copper transporter

Amie L. Phinney, Bettina Drisaldi, Stephen D. Schmidt et al. · Proceedings of the National Academy of Sciences · 2003 · 202 citations · Full text

Functional Characterization of Missense Mutations in ATP7B: Wilson Disease Mutation or Normal Variant?

John Forbes, Diane W. Cox · The American Journal of Human Genetics · 1998 · 176 citations · Full text

Missense Mutations, Mendelian Disorder, Genetic Disorder +8