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A novel cause for primordial dwarfism revealed: defective tRNA modification

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. See related Research article: http://www.genomebiology.com/2015/16/1/210.

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Detalhes bibliográficos
Publicado no:Genome Biol
Main Authors: Filonava, Liudmila, Torres, Adrian Gabriel, de Pouplana, Lluis Ribas
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4591068/
https://ncbi.nlm.nih.gov/pubmed/26429597
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-015-0786-y
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