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Journal of Medical Genetics logoLink to Journal of Medical Genetics
letter
. 2003 Apr;40(4):290–295. doi: 10.1136/jmg.40.4.290

A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase

B Kim, K Smith, M Petris
PMCID: PMC1735426  PMID: 12676902

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