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Copyright ©The Author(s) 2015.
World J Dermatol. Feb 2, 2015; 4(1): 44-49
Published online Feb 2, 2015. doi: 10.5314/wjd.v4.i1.44
Table 2 Reported clinical variants and geographic distributions of the most common recurrent mutations of the CYLD gene
CYLD cDNACYLDproteinDetected in patients withNationalityRef.
c.1112C > Ap.S371XBSS, FC, MFT1American, African American, Irish, Dutch, Austrian, Czech, Slovak, ChineseBignell et al[27], 2000; Bowen et al[30], 2005; Saggar et al[32], 2008; Linos et al[40], 2011; Kazakov et al[39], 2011; Grossmann et al[33], 2013; Kacerovska et al[51], 2013; Lv et al[41], 2013; Van den Ouweland et al[36], 2011
c.2272C > Tp.R758XBSS, FC, MFT1American, South African, Austrian, Czech, Dutch, Chinese, JapaneseBignell et al[27], 2000; Kazakov et al[38], 2009; Kazakov et al[39], 2011; Grossmann et al[33], 2013; Oiso et al[42], 2004; Zhang et al[37], 2006; van den Ouweland et al[36], 2011
c.2806C > Tp.R936XBSS, FC, MFT1American, Canadian, Anglo-Saxon, Czech, Hungarian, ChineseBignell et al[27], 2000; Bowen et al[30], 2005; Saggar et al[32], 2008; Kazakov et al[38], 2009; Grossmann et al[33], 2013; Young et al[31], 2006; Nagy et al[35], 2013