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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Missense mutation a point mutation that causes a change in one amino acid of a protein.

错义突变引起蛋白质中一个氨基酸变化的点突变。

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Missense mutation — a mutation that changes a codon specific for one amino acid to specify another amino acid.

突变成编码另一种氨基酸的密码子。

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