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

Authors
Ogawa, A Yamamoto, S Takayanagi, M Kogo, T Kanazawa, M Kohno, Y
Citation
A. Ogawa et al., An Ile/Val polymorphism at codon 1464 of the ATP7A gene, J HUM GENET, 44(6), 1999, pp. 423-424
Citations number
6
Categorie Soggetti
Molecular Biology & Genetics
Journal title
JOURNAL OF HUMAN GENETICS
ISSN journal
14345161 → ACNP
Volume
44
Issue
6
Year of publication
1999
Pages
423 - 424
Database
ISI
SICI code
1434-5161(1999)44:6<423:AIPAC1>2.0.ZU;2-S
Abstract
An isoleucine/valine polymorphism was observed at codon 1464 of the ATP7A g ene, which is thought to encode a copper transporting adenosine triphosphat ase (ATPase). The frequency of Val1464 was estimated to be 5.7% in the Japa nese population. This polymorphism may be useful in genetic studies of Menk es disease.