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首页> 外文期刊>American journal of medical genetics, Part A >Corrigendum to 'Snyder-Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype. Am J Med Genet 2013, 161A: 2316-2320'
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Corrigendum to 'Snyder-Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype. Am J Med Genet 2013, 161A: 2316-2320'

机译:“ Snyder-Robinson综合征:精胺合酶中的新型无意义突变和表型扩展。AmJ Med Genet 2013,161A:2316-2320”勘误

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摘要

Due to an error in processing the open-reading frame for spermine synthase, the mutation c.200G>A was incorrectly reported as a nonsense mutation, p.G67X. Rather the correct nomenclature should be p.G67E, a missense mutation. Therefore, the title of the paper should be altered to read: "Snyder-Robinson syndrome: A novel missense mutation in spermine synthase and expansion of the phenotype".The authors respectfully regret the error.
机译:由于处理精胺合酶的开放阅读框时出错,突变c.200G> A被错误地报告为无意义突变p.G67X。正确的命名应该是p.G67E,一个错义突变。因此,论文标题应改为:“ Snyder-Robinson综合征:精胺合酶的新型错义突变和表型的扩展”。作者对此表示遗憾。

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