Chromosome 21: from sequence to applications

被引：25

作者：

Antonarakis, SE

机构：

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

[2] Univ Hosp, CH-1211 Geneva, Switzerland

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 2001年 / 11卷 / 03期

关键词：

D O I：

10.1016/S0959-437X(00)00185-4

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Last year we celebrated the sequencing of the entire long arm of human chromosome 21. This achievement now provides unprecedented opportunities to understand the molecular pathophysiology of trisomy 21, elucidate the mechanisms of all monogenic disorders of chromosome 21, and discover genes and functional sequence variations that predispose to common complex disorders. All these steps require the functional analysis of gene products and the determination of the sequence variation of this chromosome.

引用

页码：241 / 246

页数：6

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