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Somatic correction of junctional epidermolysis bullosa by a highly recombinogenic AAV variant.
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Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients.
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Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.
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Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant beta3 chain into laminin 332 in beta3-/- keratinocytes in vitro.
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Targeted inactivation of murine laminin gamma2-chain gene recapitulates human junctional epidermolysis bullosa.
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J Invest Dermatol. 2003 Oct;121(4):720-31. doi: 10.1046/j.1523-1747.2003.12515.x.
Molecular mechanisms of junctional epidermolysis bullosa: Col 15 domain mutations decrease the thermal stability of collagen XVII.
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J Invest Dermatol. 2005 Dec;125(6):1112-8. doi: 10.1111/j.0022-202X.2005.23943.x.
Corrective transduction of human epidermal stem cells in laminin-5-dependent junctional epidermolysis bullosa.
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Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.
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