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Science 16 March 1973:
Vol. 179. no. 4078, pp. 1140 - 1142
DOI: 10.1126/science.179.4078.1140
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Articles

Menkes' Kinky Hair Disease: Further Definition of the Defect in Copper Transport

D. M. Danks 1, Elizabeth Cartwright 1, B. J. Stevens 2, and R. R. W. Townley 3

1 Genetics Research Unit, Royal Children's Hospital Research Foundation, and Department of Genetics, University of Melbourne, Melbourne, Victoria, Australia
2 Department of Pathology, Royal Children's Hospital
3 Department of Gastroenterology, Royal Children's Hospital

Duodenal mucosa obtained from two patients with Menkes' syndrome contained abnormally large amounts of copper. The defect in copper absorption in this disease must lie in the process of intracellular handling or of transport across the serosal cell membrane. Fibroblastic cells cultured from the skin of patients and of heterozygous females show intense metachromasia in primary culture which disappears in subculture. These cells may be useful for the study of copper transport in vitro and for the identification of heterozygotes in affected families.


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