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

被引：237

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

来源：

CELL | 2001年 / 107卷 / 04期

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

页码：411 / 414

页数：4

共 3 条

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CLINICAL GENETICS, 2001, 60 (01) : 11 - 12
[2] Do HLA-H mutations influence liver iron content or disease risk in alcoholics?
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Guzail, M
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[3] Low influence of tumor cell content on mRNA expression levels of ESR, PGR, HER2 and KI67 when performing the MammaTyper® RT-PCR kit
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Lakis, Sotirios
Wachter, David
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Hartmann, Arndt
CANCER RESEARCH, 2015, 75

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