Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis

被引:10
|
作者
Winge, Marten C. G. [1 ]
Hoppe, Torborg [2 ]
Lieden, Agne [3 ]
Nordenskjold, Magnus [3 ]
Vahlquist, Anders [2 ]
Wahlgren, Carl-Fredrik [1 ]
Torma, Hans [2 ]
Bradley, Maria [1 ,3 ]
Berne, Berit [2 ]
机构
[1] Karolinska Inst, Karolinska Univ Hosp Solna, Dept Med Solna, Dermatol Unit, SE-17176 Stockholm, Sweden
[2] Uppsala Univ, Dept Med Sci Dermatol & Venereol, SE-75185 Uppsala, Sweden
[3] Karolinska Inst, Karolinska Univ Hosp Solna, Dept Mol Med & Surg, SE-17176 Stockholm, Sweden
关键词
Filaggrin; Ichthyosis; Mutation; Steroid sulfatase; X-linked recessive ichthyosis; STEROID SULFATASE;
D O I
10.1016/j.jdermsci.2011.03.011
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
引用
收藏
页码:62 / 64
页数:3
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