ATP7A transcripts could not be detected in MD fibroblasts, because the ATP7A gene in these cells was almost completely deleted (ex2–ex23) There was some expression of ATP7B in WD fibroblasts, but since the mutation [c.2333G > T, p.(Arg778Leu)] might affect splicing and/or RNA stability its expression was relatively low. The gene discussed is ATP7B; the disease is Wilson disease.