Rare disease registries and mutation/variation dat... [Hum Mutat. 2011] - PubMed

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The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations. [Hum Mutat. 2011]
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, et al. Hum Mutat. 2011 Oct; 32(10):1100-7. Epub 2011 Sep 9.
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. [Hum Genet. 2010]
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García M, Escamez MJ, Cuadrado-Corrales N, Illera N, Sánchez Jimeno C, Vélez C, Trujillo-Tiebas MJ, Ayuso C, Del Río M. Hum Genet. 2010 Jan; 127(1):120-1.
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. [Hum Genet. 2009]
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Rare disease registries and mutation/variation databases.
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Hum Mutat. 2011 Oct ;32(10):1073-4. doi: 10.1002/humu.21596.

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