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Skin microbiome analysis of a junctional epidermolysis bullosa patient treated with genetically modified stem cells.
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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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J Invest Dermatol. 2008 Jun;128(6):1476-86. doi: 10.1038/sj.jid.5701197. Epub 2007 Dec 13.
Molecular mechanisms of junctional epidermolysis bullosa: Col 15 domain mutations decrease the thermal stability of collagen XVII.
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Corrective transduction of human epidermal stem cells in laminin-5-dependent junctional epidermolysis bullosa.
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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.
