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O-fucosyltransferase 1, cause generalized Dowling-Degos disease. Am J Hum Genet 2013; 92:895–903. 3 McMillan BJ, Zimmerman B, Egan ED et al. Structure of human POFUT1, its requirement in ligand-independent oncogenic… Click to show full abstract
O-fucosyltransferase 1, cause generalized Dowling-Degos disease. Am J Hum Genet 2013; 92:895–903. 3 McMillan BJ, Zimmerman B, Egan ED et al. Structure of human POFUT1, its requirement in ligand-independent oncogenic Notch signaling, and functional effects of Dowling-Degos mutations. Glycobiology 2017. https://doi.org/10.1093/glycob/cwx020 4 Li CR, Brooks YS, Jia WX et al. Pathogenicity of POFUT1 mutations in two Chinese families with Dowling-Degos disease. J Eur Acad Dermatol Venereol 2016; 30:79–81.
Journal Title: British Journal of Dermatology
Year Published: 2018
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