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Article

Construction and validation of an RNA trans-splicing molecule suitable to repair a large number of COL7A1 mutations.

Gene therapy - 1 Nov 2016

Tockner B, Kocher T, Hainzl S, Reichelt J, Bauer J W, Koller U, Murauer E M

Abstract excerpt

RNA trans-splicing has become a versatile tool in the gene therapy of monogenetic diseases. This technique is especially valuable for the correction of mutations in large genes such as COL7A1, which underlie the dystrophic subtype of the skin blistering disease epidermolysis bullosa. Over 800 mutations spanning the entire length of the COL7A1 gene have been associated with defects in type VII collagen, leading to...

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Identifiers

PMID: 27434145
DOI: 10.1038/gt.2016.57
PMCID: PMC5097067

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Construction and validation of an RNA trans-splicing molecule suitable to repair a large number of COL7A1 mutations.PMID 27434145Read ↗

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