A novel keratin 5 splice site mutation in a Filipino family resulting in epidermolysis bullosa simplex associated with ankyloblepharon

被引:0
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作者
Halim, I [1 ]
Yan, W. F. [2 ,3 ]
King-Ismael, D. [1 ]
Tran, K. [2 ,4 ]
Melbourne, W. [2 ,4 ]
Figueira, E. C. [2 ]
Chow, C. W. [5 ]
Lloyd, L. [6 ]
Murrell, D. F. [2 ,3 ]
机构
[1] Jose R Reyes Mem Med Ctr, Dept Dermatol, Manila, Philippines
[2] Univ NSW, Sydney, NSW, Australia
[3] St George Hosp, Dept Dermatol, Sydney, NSW, Australia
[4] St George Hosp, SEALS, Dept Anat Pathol, Sydney, NSW, Australia
[5] Royal Childrens Hosp, Dept Anat Pathol, Melbourne, Vic, Australia
[6] Royal Brisbane Hosp, Dept Chem Pathol, Brisbane, Qld, Australia
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中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
引用
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页码:S47 / S47
页数:1
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