[1] Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.Sci Rep. 2017 Apr 7;7(1):757.

[2] Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome.Hum Mol Genet. 1998 Mar;7(3):465-9.