Jonkman, Marcel F.

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Journal Article

Gostyńska, Katarzyna B.; Nijenhuis, Miranda; Lemmink, Henny; Pas, Hendri H.; Pasmooij, Anna M.G.; Kernland Lang, Kristin; Castañón, Maria J.; Wiche, Gerhard; Jonkman, Marcel F. (2015). Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex. Human molecular genetics, 24(11), pp. 3155-3162. Oxford University Press 10.1093/hmg/ddv066

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