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

Awaiting DOI assignment.

Record added: Nov. 1, 2018, 6:28 p.m.
Record updated: Jan. 24, 2020, 1:29 p.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

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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)