Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy.

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Gene Therapy for Epidermolysis Bullosa: Sticky Business.Impaired lymphoid extracellular matrix impedes antibacterial immunity in epidermolysis bullosa.Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells.

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Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy.

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2016 nî lūn-bûn

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2016年の論文

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Analysis of the functional con ...... epidermolysis bullosa therapy.

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Analysis of the functional con ...... epidermolysis bullosa therapy.

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Analysis of the functional con ...... epidermolysis bullosa therapy.

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P1476

Analysis of the functional con ...... epidermolysis bullosa therapy.

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Anna Mg Pasmooij

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Olivier Bornert

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Tobias Kühl

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P2860

Stable alteration of pre-mRNA splicing patterns by modified U7 small nuclear RNAs

Laminin 5 binds the NC-1 domain of type VII collagen

Advances in understanding and treating dystrophic epidermolysis bullosa

Double-target antisense U7 snRNAs promote efficient skipping of an aberrant exon in three human beta-thalassemic mutations

Interactions of the amino-terminal noncollagenous (NC1) domain of type VII collagen with extracellular matrix components. A potential role in epidermal-dermal adherence in human skin

Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene

NC1 domain of type VII collagen binds to the beta3 chain of laminin 5 via a unique subdomain within the fibronectin-like repeats

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.

Tropism-modified AAV vectors overcome barriers to successful cutaneous therapy.

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scholarly article

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10.1038/MT.2016.92

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Alexander Nyström

Peter C van den Akker

Jeroen Bremer

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2016-05-09T00:00:00Z

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27157667

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Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy.

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P2860

P2860

Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy.

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P932