Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus

被引：30

作者：

Abe, Junya

Izawa, Kazushi

Nishikomori, Ryuta ^{[1
]}

Awaya, Tomonari

Kawai, Tomoki

Yasumi, Takahiro

Hiragi, Naoko ^{[2
]}

Hiragi, Toru ^{[2
]}

Ohshima, Yusei ^{[3
]}

Heike, Toshio

机构：

[1] Kyoto Univ, Dept Pediat, Grad Sch Med, Sakyo Ku, Kyoto 6068507, Japan

[2] Tsuruga Municipal Hosp, Dept Pediat, Tsuruga, Fukui, Japan

[3] Univ Fukui, Dept Pediat, Fac Med Sci, Fukui 910, Japan

来源：

RHEUMATOLOGY | 2013年 / 52卷 / 02期

关键词：

ERYTHEMATOSUS;

D O I：

10.1093/rheumatology/kes181

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

[No abstract available]

引用

页码：406 / 408

页数：3

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