The mutation results in a malfunctional protein, which cannot perform its normal task to regulate cell growth or actually induces uncontrolled cell growth.
突变产生异常蛋白，不能行使正常功能调节细胞生长，或引发不可控细胞生长。
It is marked by a mutation in a gene known as RPE65 which results in a missing enzyme that leads to degradation of the retina and the disruption of vision processing in the brain.
这种病的特点是，一段名为RPE65的基因发生变异，导致缺失，进而引起视网膜退化，大脑视觉处理中断。
Results A missense mutation of 1346(G>C) in exon 11, which was a homozygotic mutation, was identified in one patient;
结果在1例患者中发现第11外显子的1346 （G>C）的错义突变，为一种纯合突变；
Results A missense mutation of 1346(G>C) in exon 11, which was a homozygotic mutation, was identified in one patient;
结果在1例患者中发现第11外显子的1346 （G>C）的错义突变，为一种纯合突变；
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