Clinical characteristics of CHM patients and expected effect of determined mutations on the structure of REP-1 protein.
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*HM, hand motion; LP, light perception; NLP, no light perception. **Brothers carrying the same mutation in Rep-1 protein. †effect of mutations I553X, L550P, Y504X and P179X previously analyzed by Sergeev et al. 2009.
创建时间：
2013-02-21
