Nomenclature for the description of human sequence variations

被引：770

作者：

den Dunnen, JT

Antonarakis, E

机构：

[1] Ctr Med Univ Geneva, Div Med Genet, CH-1211 Geneva, Switzerland

[2] Leiden Univ, Med Ctr, MGC Dept Human & Clin Genet, Leiden, Netherlands

来源：

HUMAN GENETICS | 2001年 / 109卷 / 01期

关键词：

D O I：

10.1007/s004390100505

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：121 / 124

页数：4