Translation matters: protein synthesis defects in inherited disease

@article{Scheper2007TranslationMP,
  title={Translation matters: protein synthesis defects in inherited disease},
  author={Gert C. Scheper and Marjo S. Knaap and Christopher G. Proud},
  journal={Nature Reviews Genetics},
  year={2007},
  volume={8},
  pages={711-723}
}
The list of genetic diseases caused by mutations that affect mRNA translation is rapidly growing. Although protein synthesis is a fundamental process in all cells, the disease phenotypes show a surprising degree of heterogeneity. Studies of some of these diseases have provided intriguing new insights into the functions of proteins involved in the process of translation; for example, evidence suggests that several have other functions in addition to their roles in translation. Given the numerous… Expand

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