Mutations of ATP7B gene in wilson disease in Japan: Identification of nine mutations and lack of clear founder effect in a Japanese population

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

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

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

Life Sciences, Genetics, Molecular Genetics +12

Mapping, cloning and genetic characterization of the region containing the Wilson disease gene

Konstantin Petrukhin, S G Fischer, Mario Pirastu et al. · Nature Genetics · 1993 · 509 citations

Life Sciences, Genetics, Molecular Genetics +8

Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions

Konstantin Petrukhin, Svetiana Lutsenko, Barbara M. Ross et al. · Human Molecular Genetics · 1994 · 355 citations

Medicine, Genetics, Molecular Genetics +17