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Cell. 2001 Nov 16;107(4):411-4.

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

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Howard Hughes Medical Institute, Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 720 Rutland Avenue, Baltimore, MD 21205, USA.


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.

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