Menkes' disease: perspective and update on a fatal copper disorder.
Although the causes of the abnormal copper utilization seen in Menkes' disease remain unknown, a candidate gene reported by three laboratories has narrowed the search for the defective or missing factor. These genetic studies also suggest that a copper ATPase may be important in normal copper metabolism.
Harris
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Department of Biochemistry and Biophysics, Texas A&M University, College Station 77843.
D003300:Copper / Q000378:metabolism*; D006801:Humans; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics / Q000378:metabolism; D009747:Nutritional Physiological Phenomena
D003300:Copper