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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Publicado en:Hum Mol Genet
Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2019
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Acceso en línea: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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