• Mutation; HGNC; HGNC:869; ATP7A; Simple; p.Ile220Serfs*9 (c.659_663delTCTCA) (803_807delATCTC) (p.Leu219fs); Zygosity=Hemizygous (PubMed=7977350).
  

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

PubMed=7438975; DOI=10.1159/000455548
Beratis N.G., Yee M., LaBadie G.U., Hirschhorn K.
Effect of copper on Menkes' and normal cultured skin fibroblasts.
Dev. Pharmacol. Ther. 1:305-317(1980)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=7977350; PMCID=PMC1918324
Das S., Levinson B., Whitney S., Vulpe C.D., Packman S., Gitschier J.
Diverse mutations in patients with Menkes disease often lead to exon skipping.
Am. J. Hum. Genet. 55:883-889(1994)