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X-linked congenital stationary night blindness (CSNB) and NYX mutation have not been reported in Chinese. Here, two Chinese families with the complete form of CSNB (CSNB1) are presented. Linkage analysis of one family mapped the disease to Xp11–Xq13 where NYX is located. Sequence analysis of NYX identified two novel mutations, c.281G>C and c.302T>C, which would result in missense changes of...
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