Amelioration of junctional epidermolysis bullosa due to exon skipping

Summary Mutations in the COL17A1 gene lead to the genetic blistering disorder junctional epidermolysis bullosa generalized intermediate type (JEB‐gen‐intermed). Antisense oligonucleotide‐mediated exon skipping is a strategy that aims to skip the mutation‐containing exon and thereby produce a smaller...

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Bibliographic Details

Published in:	British journal of dermatology (1951) Vol. 174; no. 6; pp. 1375 - 1379
Main Authors:	Kowalewski, C., Bremer, J., Gostynski, A., Wertheim‐Tysarowska, K., Wozniak, K., Bal, J., Jonkman, M.F., Pasmooij, A.M.G.
Format:	Journal Article
Language:	English
Published:	England Oxford University Press 01-06-2016
Subjects:	Antisense oligonucleotides Collagen Epidermolysis bullosa Exon skipping Frameshift mutation Gene therapy Junctional epidermolysis bullosa Mosaicism Mutation Nonsense mutation Phenotypes
Online Access:	Get full text
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