A loss-of-function homozygous mutation in <i>DDX59</i> implicates a conserved DEAD-box RNA helicase in nervous system development and function

Vincenzo Salpietro(University College London), Henry Houlden(Queen Mary University of London), Stéphanie Efthymiou(Queen Mary University of London), Mousumi Mutsuddi(Banaras Hindu University), Ashim Mukherjee(Banaras Hindu University), Mina Ryten(Guy's Hospital), Valeria Dipasquale(University of Messina), Conceição Bettencourt(National Hospital for Neurology and Neurosurgery), Balasubramaniem Ashokkumar(Madurai Kamaraj University), Jana Vandrovcová(Texas Tech University), Sara Manti(University of Messina), Kshitij Mankad(Great Ormond Street Hospital for Children NHS Foundation Trust), Oscar D. Bello(Department of Embryology), Andreea Manole(National Hospital for Neurology and Neurosurgery), Bhawana Maurya(Howard Hughes Medical Institute), Sarah Wiethoff(University College London), Maria Concetta Cutrupi(University of Messina), Juan A. Botía(University College London)
Human Mutation
November 11, 2017
Cited by 54


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