Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

Progressive microcephaly is a heterogeneous condition with causes including mutations in genes encoding regulators of neuronal survival. Here, we report the identification of mutations in QARS (encoding glutaminyl-tRNA synthetase [QARS]) as the causative variants in two unrelated families affected b...

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Detalhes bibliográficos
Main Authors: Zhang, Xiaochang, Ling, Jiqiang, Barcia, Giulia, Jing, Lili, Wu, Jiang, Barry, Brenda J., Mochida, Ganeshwaran H., Hill, R. Sean, Weimer, Jill M., Stein, Quinn, Poduri, Annapurna, Partlow, Jennifer N., Ville, Dorothée, Dulac, Olivier, Yu, Tim W., Lam, Anh-Thu N., Servattalab, Sarah, Rodriguez, Jacqueline, Boddaert, Nathalie, Munnich, Arnold, Colleaux, Laurence, Zon, Leonard I., Söll, Dieter, Walsh, Christopher A., Nabbout, Rima
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3980424/
https://ncbi.nlm.nih.gov/pubmed/24656866
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.03.003
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