Article
Translation matters: protein synthesis defects in inherited disease.
Nature reviews. Genetics - 1 Sept 2007
Scheper Gert C, van der Knaap Marjo S, Proud Christopher G
Abstract excerpt
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...
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