When the message goes awry: Disease-producing mutations that influence mRNA content and performance

被引:240
作者
Mendell, JT [1 ]
Dietz, HC [1 ]
机构
[1] Johns Hopkins Univ, Sch Med, Inst Med Genet, Howard Hughes Med Inst, Baltimore, MD 21205 USA
关键词
D O I
10.1016/S0092-8674(01)00583-9
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Mutations that cause disease commonly occur in the coding sequence and directly influence protein structure and function. However, many diseases result from mutations that influence various aspects of mRNA metabolism, including processing, export, stability, and translational control.
引用
收藏
页码:411 / 414
页数:4
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