Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease

Aminoacyl-tRNA synthetases (ARSs) are critical for protein translation. Pathogenic variants of ARSs have been previously associated with peripheral neuropathy and multisystem disease in heterozygotes and homozygotes, respectively. We report seven related children homozygous for a novel mutation in t...

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Veröffentlicht in:Hum Mol Genet
Hauptverfasser: Williams, Katie B, Brigatti, Karlla W, Puffenberger, Erik G, Gonzaga-Jauregui, Claudia, Griffin, Laurie B, Martinez, Erick D, Wenger, Olivia K, Yoder, Mark A, Kandula, Vinay V R, Fox, Michael D, Demczko, Matthew M, Poskitt, Laura, Furuya, Katryn N, Reid, Jeffrey G, Overton, John D, Baras, Aris, Miles, Lili, Radhakrishnan, Kadakkal, Carson, Vincent J, Antonellis, Anthony, Jinks, Robert N, Strauss, Kevin A
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2019
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General Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6360277/
https://ncbi.nlm.nih.gov/pubmed/30304524
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy344
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