The Missense Mutation p.R1303Q in Type XVII Collagen Underlies Junctional Epidermolysis Bullosa Resembling Kindler Syndrome

被引：23

作者：

Has, Cristina ^{[1
]}

Kiritsi, Dimitra ^{[1
]}

Mellerio, Jemima E. ^{[2
]}

Franzke, Claus-Werner ^{[1
]}

Wedgeworth, Emma ^{[2
]}

Tantcheva-Poor, Iliana ^{[3
]}

Kernland-Lang, Kristin ^{[4
]}

Itin, Peter ^{[5
]}

Simpson, Michael A. ^{[6
]}

Dopping-Hepenstal, Patricia J. ^{[7
]}

Fujimoto, Wataru ^{[8
]}

McGrath, John A. ^{[2
]}

Bruckner-Tuderman, Leena ^{[1
,9
]}

机构：

[1] Univ Med Ctr Freiburg, Dept Dermatol, Freiburg, Germany

[2] Kings Coll London, St Johns Inst Dermatol, London WC2R 2LS, England

[3] Univ Cologne, Dept Dermatol, Cologne, Germany

[4] Univ Bern, Dept Dermatol, Bern, Switzerland

[5] Univ Basel, Dept Dermatol, Basel, Switzerland

[6] Kings Coll London, Dept Med & Mol Genet, London WC2R 2LS, England

[7] St Thomas Hosp, GSTS Pathol, London, England

[8] Kawasaki Med Sch, Dept Dermatol, Okayama, Japan

[9] Univ Freiburg, Freiburg Inst Adv Studies, D-79106 Freiburg, Germany

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2014年 / 134卷 / 03期

关键词：

D O I：

10.1038/jid.2013.367

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：845 / 849

页数：5

共 18 条

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