Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

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Van Bergen, Nicole J, Hock, Daniella H, Spencer, Lucy, Massey, Massey, Stait, Tegan, Stark, Zornitza, Lunke, Sebastian, Roesley, Ain, Peters, Heidi, Lee, Joy Yaplito, Fevre, Anna Le, Heath, Oliver, Mignone, Cristina, Yang, Joseph Yuan-Mou, Ryan, Monique M, D’arcy, Colleen, Nash, Margot, Smith, Sile, Caruana, Nikeisha ORCID: 0000-0002-0817-1686, Thorburn, David R, Stroud, David A ORCID: 0000-0002-2048-3383, White, Susan M, Christodoulou, John and Brown, Natasha J (2022) Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function. International Journal of Molecular Sciences, 23 (2). ISSN 1661-6596

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Item type Article
URI https://vuir.vu.edu.au/id/eprint/46420
DOI 10.3390/ijms23020986
Official URL https://www.mdpi.com/1422-0067/23/2/986
Subjects Current > FOR (2020) Classification > 3102 Bioinformatics and computational biology
Current > Division/Research > Institute for Health and Sport
Keywords mitochondria; reactive oxygen species; genome sequencing; mitoribosome; oxidative phosphorylation; PYROXD2; ultrarapid genomics
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