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Somatic correction of junctional epidermolysis bullosa by a highly recombinogenic AAV variant.
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Mol Ther. 2014 Apr;22(4):725-33. doi: 10.1038/mt.2013.290. Epub 2014 Jan 6.
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Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant beta3 chain into laminin 332 in beta3-/- keratinocytes in vitro.
Igoucheva O, Kelly A, Uitto J, Alexeev V.
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Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.
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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.
Targeted inactivation of murine laminin gamma2-chain gene recapitulates human junctional epidermolysis bullosa.
Meng X, Klement JF, Leperi DA, Birk DE, Sasaki T, Timpl R, Uitto J, Pulkkinen L.
J Invest Dermatol. 2003 Oct;121(4):720-31. doi: 10.1046/j.1523-1747.2003.12515.x.
Corrective transduction of human epidermal stem cells in laminin-5-dependent junctional epidermolysis bullosa.
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Hum Gene Ther. 1998 Jun 10;9(9):1359-70. doi: 10.1089/hum.1998.9.9-1359.
Gentamicin induces LAMB3 nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa.
Lincoln V, Cogan J, Hou Y, Hirsch M, Hao M, Alexeev V, De Luca M, De Rosa L, Bauer JW, Woodley DT, Chen M.
Proc Natl Acad Sci U S A. 2018 Jul 10;115(28):E6536-E6545. doi: 10.1073/pnas.1803154115. Epub 2018 Jun 26.
