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A novel cause for primordial dwarfism revealed: defective tRNA modification.

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.
AuthorsLiudmila Filonava, Adrian Gabriel Torres, Lluis Ribas de Pouplana
JournalGenome biology (Genome Biol) Vol. 16 Pg. 216 (Oct 01 2015) ISSN: 1474-760X [Electronic] England
PMID26429597 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • RNA, Transfer
Topics
  • Dwarfism, Pituitary (genetics, pathology)
  • Humans
  • Methylation
  • Mutation
  • RNA Processing, Post-Transcriptional (genetics)
  • RNA, Transfer (genetics, metabolism)
  • Saccharomyces cerevisiae

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