“…3, 6, 7, 9, 10, 11, 12 A 3, 7, 11, 12 A/N 4, 5, 6, 13 IF, immunofluorescence; IHC, immunohistochemistry; RT-PCR, reverse transcriptase PCR; A, aberrant result; N, normal result and/or similar to wild type; 1, [Yamaguchi et al, 2002]; 2, [Chen et al, 2008]; 3, [Ali et al, 2008]; 4, [Di Gregorio et al, 2006]; 5, [O'Shea et al, 2008]; 6, [Molatore et al, 2010];7, [D'Agostino et al, 2010]; 8, [Fostira et al, 2010]; 9, [Chmiel et al, 2003]; 10, [Kundu et al, 2009]; 11, [Parker et al, 2005]; 12, [Wooden et al, 2004]; 13, [van der Post et al, 2009]; 14, [Dallosso et al, 2008]; 15, [Bai et al, 2005]; 16, [Bai et al, 2007]; 17, [Kanter-Smoler et al, 2006]; 18, [Tao et al, 2004]; 19, LOVD; 20, [Shinmura et al, 2000]; 21, …”