ready DEB Register

General Information
The international registry of dystrophic epidermolysis bullosa (DEB) patients and associated COL7A1 mutations.




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Record added: Nov. 1, 2018, 6:28 p.m.
Record updated: Nov. 23, 2018, 11:27 a.m. by The FAIRsharing Team.



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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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