• Mutation; HGNC; 869; ATP7A; Unexplicit; 4bp deletion within exon 6; Zygosity=Unspecified (PubMed=12385784).
  

PubMed=9813047; DOI=10.1074/jbc.273.47.31375
La Fontaine S., Firth S.D., Camakaris J., Englezou A., Theophilos M.B., Petris M.J., Howie M., Lockhart P.J., Greenough M., Brooks H., Reddel R.R., Mercer J.F.B.
Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases.
J. Biol. Chem. 273:31375-31380(1998)

PubMed=12385784; DOI=10.1016/S0925-4439(02)00164-3
Lockhart P.J., La Fontaine S., Firth S.D., Greenough M., Camakaris J., Mercer J.F.B.
Correction of the copper transport defect of Menkes patient fibroblasts by expression of two forms of the sheep Wilson ATPase.
Biochim. Biophys. Acta 1588:189-194(2002)

PubMed=20372979; DOI=10.1007/s10534-010-9332-2
Southon A., Palstra N., Veldhuis N., Gaeth A., Robin C., Burke R., Camakaris J.
Conservation of copper-transporting P(IB)-type ATPase function.
BioMetals 23:681-694(2010)