A COL7A1 variant leading to in-frame skipping of exon 15 attenuates disease severity in recessive dystrophic epidermolysis bullosa

被引：27
|
作者：
Schwieger-Briel, A. [1 ]
Weibel, L. [2 ,3 ]
Chmel, N. [1 ]
Lepert, J. [1 ]
Kernland-Lang, K. [4 ]
Grueninger, G. [1 ]
Has, C. [1 ]
机构：
[1] Univ Freiburg, Med Ctr, Dept Dermatol, D-79104 Freiburg, Germany
[2] Univ Zurich Hosp, Univ Childrens Hosp Zurich, Dept Paediat Dermatol, CH-8091 Zurich, Switzerland
[3] Univ Zurich Hosp, Univ Childrens Hosp Zurich, Dept Dermatol, CH-8091 Zurich, Switzerland
[4] Univ Hosp Bern, Dept Dermatol, CH-3010 Bern, Switzerland
来源：
BRITISH JOURNAL OF DERMATOLOGY | 2015年 / 173卷 / 05期
关键词：
MMP1; PROMOTER; MUTATIONS; VII;
D O I：
10.1111/bjd.13945
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
[No abstract available]
引用
收藏
页码：1308 / 1311
页数：4
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