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Paper Details

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Am J Hum Genet
67
2017
Gln32, Instability of the Small Mitoribosomal Subunit, Leigh Syndrome, Leigh syndrome, MRPS34, MRPS34 protein, OXPHOS, OXPHOS defects, OXPHOS enzyme deficiency, c, c.37G, c.37G>A, c.94C, c.94C>T, fibroblasts, homozygous, inherited disease, mitochondrial DNA, mitoribosome, mitoribosomes, mtDNA, p, p.Glu13Lys, skin fibroblasts, wild-type MRPS34
Author NameAffiliation
Bryn D WebbIcahn School of Medicine at Mount Sinai, USA Icahn Institute for Genomics and Multiscale Biology
Bryn D WebbIcahn School of Medicine at Mount Sinai, USA Icahn Institute for Genomics and Multiscale Biology
Alison G ComptonMurdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne
Eric E SchadtIcahn School of Medicine at Mount Sinai, USA Icahn Institute for Genomics and Multiscale Biology
Eric E SchadtIcahn School of Medicine at Mount Sinai, USA Icahn Institute for Genomics and Multiscale Biology
Sander M HoutenIcahn School of Medicine at Mount Sinai, USA Icahn Institute for Genomics and Multiscale Biology
Zhancheng Zhang
Sarah E CalvoHoward Hughes Medical Institute, Massachusetts General Hospital, Harvard Medical School, USA Broad Institute of MIT and Harvard
Vamsi K MoothaHoward Hughes Medical Institute, Massachusetts General Hospital, Harvard Medical School, USA Broad Institute of MIT and Harvard
Vamsi K MoothaHoward Hughes Medical Institute, Massachusetts General Hospital, Harvard Medical School, USA Broad Institute of MIT and Harvard
John ChristodoulouMurdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne
David R ThorburnMurdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Australia Victorian Clinical Genetic Services
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