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An Ile/Val polymorphism at codon 1464 of the ATP7A gene
A Ogawa1, S Yamamoto, M Takayanagi
1Department of Pediatrics, Chiba University School of Medicine, Japan. aogawa@pediat3.m.chiba-u.ac.jp
Journal of Human Genetics
|November 26, 1999
Abstract:
An isoleucine/valine polymorphism was observed at codon 1464 of the ATP7A gene, which is thought to encode a copper transporting adenosine triphosphatase (ATPase). The frequency of Val1464 was estimated to be 5.7% in the Japanese population. This polymorphism may be useful in genetic studies of Menkes disease.