Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) associated with different subtypes of epidermolysis bullosa

被引：0
|
作者：
Vahidnezhad, H. [1 ,2 ]
Youssefian, L. [1 ,3 ]
Saeidian, A. [1 ]
Touati, A. [4 ]
Sotoudeh, S. [5 ]
Guy, A. [6 ]
Lovell, P. [6 ]
Liu, L. [6 ]
Kariminejad, A. [7 ]
McGrath, J. [8 ]
Zeinali, S. [9 ]
Uitto, J. [4 ]
机构：
[1] Thomas Jefferson Univ, Philadelphia, PA 19107 USA
[2] Pasteur Inst Iran, Philadelphia, PA USA
[3] Univ Tehran Med Sci, Philadelphia, PA USA
[4] TJU, Dermatol & Cutaneous Biol, Philadelphia, PA USA
[5] Univ Tehran Med Sci, Tehran, Iran
[6] St Thomas Hosp, London, England
[7] Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran
[8] Kings Coll London, St Johns Inst Dermatol, Guys Campus, London, England
[9] Pasteur Inst Iran, Tehran, Iran
来源：
JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2018年 / 138卷 / 05期
关键词：
D O I：
10.1016/j.jid.2018.03.806
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
796
引用
收藏
页码：S135 / S135
页数：1
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