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Identification of c. 1517-I GT acceptor splicing site mutation on gene C0L4A5
(a) The sequence of healthy subject; (b) The mutation site, c. 1517-I G>T in C0L4A5 gene (arrow), base alteration from G to T on the acceptor splicing site of the 22nd intron. Base G closed mutation was also found at the 1st base of the 23rd intron in COL4A5
