Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

作者：Martin W. Breuss, Tipu Sultan, Kiely N. James, Rasim Özgür Rosti, Eric Scott, Damir Musaev, Bansri Furia, André Reis, Heinrich Sticht, Mohammed Al‐Owain, Fowzan S. Alkuraya, Miriam S. Reuter, Rami Abou Jamra, Christopher R. Trotta, Joseph G. Gleeson · 发表于：The American Journal of Human Genetics · 年份：2016 · DOI：10.1016/j.ajhg.2016.05.023 · 被引用次数：59 · 研究领域：RNA modifications and cancer、RNA Research and Splicing、RNA and protein synthesis mechanisms