Volume 173, Issue 5 pp. 1308-1311
Research letter

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

A. Schwieger-Briel

A. Schwieger-Briel

Department of Dermatology, Medical Center, University of Freiburg, Hauptstrasse 7, Freiburg, 79104 Germany

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L. Weibel

L. Weibel

Department of Paediatric Dermatology, University Children's Hospital Zurich, University Hospital Zurich, Zurich, Switzerland

Department of Dermatology, University Children's Hospital Zurich, University Hospital Zurich, Zurich, Switzerland

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N. Chmel

N. Chmel

Department of Dermatology, Medical Center, University of Freiburg, Hauptstrasse 7, Freiburg, 79104 Germany

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J. Leppert

J. Leppert

Department of Dermatology, Medical Center, University of Freiburg, Hauptstrasse 7, Freiburg, 79104 Germany

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K. Kernland-Lang

K. Kernland-Lang

Department of Dermatology, University Hospital Bern, Bern, Switzerland

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G. Grüninger

G. Grüninger

Department of Dermatology, Medical Center, University of Freiburg, Hauptstrasse 7, Freiburg, 79104 Germany

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C. Has

Corresponding Author

C. Has

Department of Dermatology, Medical Center, University of Freiburg, Hauptstrasse 7, Freiburg, 79104 Germany

Correspondence: Cristina Has.

E-mail:[email protected]

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First published: 15 June 2015
Citations: 32
Funding sources: The work of C.H. is supported by Debra International, the Fritz Thyssen Foundation and the Else Kröner-Fresenius Foundation.
Conflicts of interest: none declared.
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