Nomenclature for the description of human sequence variations
Nomenclature for the description of human sequence variations
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DOI：
10.1007/s004390100505
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发表时间：
2001-07-01
期刊：
影响因子：
5.3
通讯作者：
Antonarakis, E
中科院分区：
文献类型：
--
作者：
den Dunnen, JT;Antonarakis, E
最近提出了一种命名系统来描述DNA和蛋白质序列的变化（突变和多态性）。这些命名建议现在已被广泛接受。然而，目前的规则并没有涵盖所有类型的突变，也没有涵盖更复杂的突变。本文档列出了现有的建议，并总结了描述其他更复杂更改的建议。这篇论文的另一个版本发表在Hum Mut 15:7- 12,2000。
A nomenclature system has recently been suggested for the description of changes (mutations and polymorphisms) in DNA and protein sequences. These nomenclature recommendations have now been largely accepted. However, current rules do not yet cover all types of mutations, nor do they cover more complex mutations. This document lists the existing recommendations and summarizes suggestions for the description of additional, more complex changes. Another version of this paper has been published in Hum Mut 15:7-12, 2000.