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

Mendell, J T; Dietz, H C · Cell · 2001

review · Level V

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Abstract

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.

Medical subject headings