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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Vydáno v:Am J Hum Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2016
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On-line přístup: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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