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

descriptionPublicationkeyboard_double_arrow_right Article 01 Oct 1999 English Publisher:Springer Science and Business Media LLCJournal:Journal of Human Genetics, volume 44, pages 423-424 (issn: 1434-5161, eissn: 1435-232X,

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

doi: 10.1007/s100380050194

pmid: 10570920

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

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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.

Related Organizations

Boston Children's Hospital
United States
Chiba University
Japan
Chiba Children's Hospital
Japan

Keywords

Adenosine Triphosphatases, Recombinant Fusion Proteins, Polymorphism, Single Nucleotide, Japan, Copper-Transporting ATPases, Humans, Carrier Proteins, Codon, Menkes Kinky Hair Syndrome, Cation Transport Proteins

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