Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

tRNA synthetase deficiencies are a growing group of genetic diseases associated with tissue-specific, mostly neurological, phenotypes. In cattle, cytosolic isoleucyl-tRNA synthetase (IARS) missense mutations cause hereditary weak calf syndrome. Exome sequencing in three unrelated individuals with se...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Kopajtich, Robert, Murayama, Kei, Janecke, Andreas R., Haack, Tobias B., Breuer, Maximilian, Knisely, A.S., Harting, Inga, Ohashi, Toya, Okazaki, Yasushi, Watanabe, Daisaku, Tokuzawa, Yoshimi, Kotzaeridou, Urania, Kölker, Stefan, Sauer, Sven, Carl, Matthias, Straub, Simon, Entenmann, Andreas, Gizewski, Elke, Feichtinger, René G., Mayr, Johannes A., Lackner, Karoline, Strom, Tim M., Meitinger, Thomas, Müller, Thomas, Ohtake, Akira, Hoffmann, Georg F., Prokisch, Holger, Staufner, Christian
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4974065/
https://ncbi.nlm.nih.gov/pubmed/27426735
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.05.027
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