A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans

The Metabolic Basis of Inherited Disease

Annals of Internal Medicine · 1990 · 4K citations

Life Sciences, Genetics, Molecular Genetics +13

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 · 2K citations

Medicine, Genetics, Molecular Genetics +7

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase

Chris D. Vulpe, Barbara Levinson, Susan Whitney et al. · Nature Genetics · 1993 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +8

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

Rudolph E. Tanzi, Konstantin Petrukhin, Jean‐Luc Pellequer et al. · Nature Genetics · 1993 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +10

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

Jamel Chelly, Zeynep Tümer, T. Tønnesen et al. · Nature Genetics · 1993 · 728 citations

Life Sciences, Genetics, Molecular Genetics +7