OALib Journal期刊
ISSN: 2333-9721
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Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome
DOI: 10.1016/j.ajhg.2018.03.015
Agnes R?tig, Aleksandra Filipovska, Alison G. Compton, Benedetta Ruzzenente, Bryn D. Webb, Coralie Zangarelli, David A. Stroud, Elizabeth M. McCormick, Eric E. Schadt, Hayley S. Mountford, Ingrid Cristian, James Byrnes, John Christodoulou, Juliette Pulman, Katrina Haude, Kyle Retterer, Marlene Rio, Marni J. Falk, Metodi D. Metodiev, Mingma D. Sherpa, Nathalie Boddaert, Nicole J. Lake, Renkui Bai, Sander M. Houten, Sarah E. Calvo, Tara R. Richman, Vamsi K. Mootha, Zahra Assouline, Zarazuela Zolkipli-Cunningham, Zhancheng Zhang
Abstract:
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