Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPaseChris D. Vulpe, Jane Gitschier, Barbara Levinson et al.|Nature Genetics|1993Cited by 1.4k
Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.Soma Das, Seymour Packman, Barbara Levinson et al.|PubMed|1995Cited by 134
The mottled gene is the mouse homologue of the Menkes disease geneBarbara Levinson, Jane Gitschier, Chris D. Vulpe et al.|Nature Genetics|1994Cited by 124
Diverse mutations in patients with Menkes disease often lead to exon skipping.Soma Das, Jane Gitschier, Barbara Levinson et al.|PubMed|1994Cited by 124