A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome

被引：16

作者：

Ben Selma, Zied

Yilmaz, Sehnem

Schischmanoff, Pierre Olivier

Blom, Astrid

Ozogul, Candan

Laroche, Liliane

Caux, Frederic ^{[1
]}

机构：

[1] Univ Paris 13, INSERM ERI 18, Bobigny, France

[2] Dept Pediat Hematol, Yzmir, Turkey

[3] Avicenne Hosp, Dept Biochem, Bobigny, France

[4] Univ Paris 13, EA 3406, Bobigny, France

[5] Avicenne Hosp, AP HP, Dept Dermatol, Bobigny, France

[6] Dept Histol Embryol, Yzmir, Turkey

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2007年 / 127卷 / 09期

关键词：

LIPID STORAGE DISEASE; PROTEIN; ICHTHYOSIS; GENE;

D O I：

10.1038/sj.jid.5700860

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：2273 / 2276

页数：4

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