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ready DEB Register

General Information
International Dystrophic Epidermolysis Bullosa Patient Registry (DEB Register) provides phenotypic and genotypic information on DEB and the related COL7A1 mutations. The registry is intended to aid in disease diagnosis, genetic counseling, and discovery of novel insights.




Awaiting DOI assignment.


Record added: Nov. 1, 2018, 6:28 p.m.
Record updated: March 8, 2021, 11:55 a.m. by The FAIRsharing Team.

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Publications

The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.

van den Akker PC,Jonkman MF,Rengaw T,Bruckner-Tuderman L,Has C,Bauer JW,Klausegger A,Zambruno G,Castiglia D,Mellerio JE,McGrath JA,van Essen AJ,Hofstra RM,Swertz MA
Hum Mutat 2011

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The COL7A1 mutation database.

Wertheim-Tysarowska K,Sobczynska-Tomaszewska A,Kowalewski C,Skronski M,Swieckowski G,Kutkowska-Kazmierczak A,Wozniak K,Bal J
Hum Mutat 2011

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Dystrophic epidermolysis bullosa: pathogenesis and clinical features.

Bruckner-Tuderman L
Dermatol Clin 2009

View Paper (PubMed) View Publication

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Grant Number(s)

  • 92003541 (The Netherlands Organization for Health Research and Development, The Hague, Netherlands)

  • Rubicon 825.09.008 (Netherlands Organisation for Scientific Research (NWO), Amsterdam, Netherlands)