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A novel cause for primordial dwarfism revealed: Defective tRNA modification

Genome Biology (2015) 16(1)
DOI: 10.1186/s13059-015-0786-y
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Abstract

A mutation in the WDR4 gene, coding for a tRNA-modifying enzyme, leads to reduced levels of guanosine methylation in tRNA in patients with primordial dwarfism.

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Filonava, L., Torres, A. G., & de Pouplana, L. R. (2015). A novel cause for primordial dwarfism revealed: Defective tRNA modification. Genome Biology, 16(1). https://doi.org/10.1186/s13059-015-0786-y

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