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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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；

youdao