A missense mutation c.G2747A (p.R916Q) of ADAR1 gene in dyschromatosis symmetrica hereditaria is not a novel mutation

被引：2

作者：

Hayashi, Masahiro ^{[1
]}

Suzuki, Tamio ^{[1
]}

机构：

[1] Yamagata Univ, Sch Med, Dept Dermatol, Yamagata 9909585, Japan

来源：

ARCHIVES OF DERMATOLOGICAL RESEARCH | 2010年 / 302卷 / 06期

关键词：

Public Health; Japan; Adenosine; Early Childhood; Clinical Manifestation;

D O I：

10.1007/s00403-010-1036-5

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：481 / 482

页数：2

共 4 条

[1] Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria [J].

Miyamura, Y ;

Suzuki, T ;

Kono, M ;

Inagaki, K ;

Ito, S ;

Suzuki, N ;

Tomita, Y .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (03) :693-699

[2] Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria [J].

Suzuki, Noriyuki ;

Suzuki, Tamio ;

Inagaki, Katsuhiko ;

Ito, Shiro ;

Kono, Michihiro ;

Horikawa, Tatsuya ;

Fujiwara, Sakuhei ;

Ishiko, Akira ;

Matsunaga, Kayoko ;

Aoyama, Yumi ;

Tosaki-Ichikawa, Hiroko ;

Tomita, Yasushi .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2007, 127 (02) :309-311

[3] Genetics of pigmentary disorders [J].

Tomita, Y ;

Suzuki, T .

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2004, 131C (01) :75-81

[4] Identification of two novel DSRAD mutations in two Chinese families with dyschromatosis symmetrica hereditaria [J].

Xu, Qingqiang ;

Xiao, Shengxiang ;

Huo, Jia ;

Dong, Yingying ;

Ren, Jianwen ;

Wang, Xiaopeng ;

Ma, Junhong ;

An, Jingang ;

Liu, Yan .

ARCHIVES OF DERMATOLOGICAL RESEARCH, 2010, 302 (03) :235-236

← 1 →