人类序列变异描述的命名法。
Nomenclature for the description of human sequence variations.
作者信息
den Dunnen J T, Antonarakis S E
机构信息
MGC Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
出版信息
Hum Genet. 2001 Jul;109(1):121-4. doi: 10.1007/s004390100505.
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.
最近有人提出了一种命名系统，用于描述DNA和蛋白质序列中的变化（突变和多态性）。这些命名建议现已被广泛接受。然而，目前的规则尚未涵盖所有类型的突变，也未涵盖更复杂的突变。本文列出了现有的建议，并总结了关于描述其他更复杂变化的建议。本文的另一个版本已发表于《人类突变》2000年第15卷第7 - 12页。
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