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.
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Received: July 23, 1999 / Accepted: August 17, 1999
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Ogawa, A., Yamamoto, S., Takayanagi, M. et al. An Ile/Val polymorphism at codon 1464 of the ATP7A gene. J Hum Genet 44, 423–424 (1999). https://doi.org/10.1007/s100380050194
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DOI: https://doi.org/10.1007/s100380050194