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Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.
van den Akker PC, van Essen AJ, Kraak MM, Meijer R, Nijenhuis M, Meijer G, Hofstra RM, Pas HH, Scheffer H, Jonkman MF. van den Akker PC, et al. Among authors: van essen aj. J Dermatol Sci. 2009 Oct;56(1):9-18. doi: 10.1016/j.jdermsci.2009.06.015. Epub 2009 Aug 8. J Dermatol Sci. 2009. PMID: 19665875
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.
van den Akker PC, Mellerio JE, Martinez AE, Liu L, Meijer R, Dopping-Hepenstal PJ, van Essen AJ, Scheffer H, Hofstra RM, McGrath JA, Jonkman MF. van den Akker PC, et al. Among authors: van essen aj. J Med Genet. 2011 Mar;48(3):160-7. doi: 10.1136/jmg.2010.082230. Epub 2010 Nov 26. J Med Genet. 2011. PMID: 21113014
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. van den Akker PC, et al. Among authors: van essen aj. Hum Mutat. 2011 Oct;32(10):1100-7. doi: 10.1002/humu.21551. Epub 2011 Sep 9. Hum Mutat. 2011. PMID: 21681854
Natural gene therapy in dystrophic epidermolysis bullosa.
van den Akker PC, Nijenhuis M, Meijer G, Hofstra RM, Jonkman MF, Pasmooij AM. van den Akker PC, et al. Arch Dermatol. 2012 Feb;148(2):213-6. doi: 10.1001/archdermatol.2011.298. Epub 2011 Oct 17. Arch Dermatol. 2012. PMID: 22004882
Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.
Kiritsi D, Garcia M, Brander R, Has C, Meijer R, Jose Escámez M, Kohlhase J, van den Akker PC, Scheffer H, Jonkman MF, Del Rio M, Bruckner-Tuderman L, Pasmooij AMG. Kiritsi D, et al. Among authors: van den akker pc. J Invest Dermatol. 2014 Aug;134(8):2097-2104. doi: 10.1038/jid.2014.118. Epub 2014 Feb 27. J Invest Dermatol. 2014. PMID: 24577406 Free article.
60 results