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

被引：4
|
作者：
Ogawa, A
Yamamoto, S
Takayanagi, M
Kogo, T
Kanazawa, M
Kohno, Y
机构：
[1] Chiba Univ, Sch Med, Dept Pediat, Chuo Ku, Chiba 2608670, Japan
[2] Chiba Childrens Hosp, Div Metab, Chiba, Japan
[3] Natl Sanatorium Shimoshizu Hosp, Div Pediat, Chiba, Japan
来源：
JOURNAL OF HUMAN GENETICS | 1999年 / 44卷 / 06期
关键词：
Menkes disease; ATP7A; MNK gene; polymorphism; copper;
D O I：
10.1007/s100380050194
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
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
收藏
页码：423 / 424
页数：2
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