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...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:Am J Hum Genet
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2016
Onderwerpen:
Report
Online toegang: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
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items