A Homozygous Nonsense Mutation and a Combination of Two Mutations of the Wilson Disease Gene in Patients with Different Lysyl Oxidase Activities in Cultured Fibroblasts

Molecular cloning: A laboratory manual

Prescott L. Deininger · Analytical Biochemistry · 1990 · 86.2K citations

Molecular Biotechnology, Natural Sciences, Genetics +8

DNA sequencing with chain-terminating inhibitors

Frederick Sanger, S. Nicklen, Alan Coulson · Proceedings of the National Academy of Sciences · 1977 · 69.1K citations · Full text

Dna, Engineering, Dna Analysis +20

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

Masato Orita, Hiroyuki Iwahana, Hiroshi Kanazawa et al. · Proceedings of the National Academy of Sciences · 1989 · 3.6K citations · Full text

Genetic Analysis, Mobility Shift Analysis, Genetic Testing +15

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

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

Molecular Physiology, Disease Mechanism, Menkes Disease +9