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

被引：0

作者：

A. Ogawa

S. Yamamoto

M. Takayanagi

T. Kogo

M. Kanazawa

Y. Kohno

机构：

[1] Department of Pediatrics,

[2] Chiba University School of Medicine,undefined

[3] 1-8-1 Inohana,undefined

[4] Chuou-ku,undefined

[5] Chiba-shi,undefined

[6] Chiba 260-8670,undefined

[7] Japan Tel. +81-43-226-2144; Fax +81-43-226-2145 e-mail: aogawa@pediat3.m.chiba-u.ac.jp,undefined

[8] Division of Metabolism,undefined

[9] Chiba Children's Hospital,undefined

[10] Chiba,undefined

[11] Japan,undefined

[12] Division of Pediatrics,undefined

[13] National Sanatorium Shimoshizu Hospital,undefined

[14] Chiba,undefined

[15] Japan,undefined

来源：

Journal of Human Genetics | 1999年 / 44卷

关键词：

Key words Menkes disease; ATP7A; MNK gene; Polymorphism; Copper;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

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.

引用

页码：423 / 424

页数：1