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Article

An Ile/Val polymorphism at codon 1464 of the ATP7A gene.

Journal of human genetics - 1 Jan 1999

Ogawa A, Yamamoto S, Takayanagi M, Kogo T, Kanazawa M, Kohno Y

Abstract excerpt

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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Identifiers

PMID: 10570920
DOI: 10.1007/s100380050194

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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