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Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria JOURNAL OF INHERITED METABOLIC DISEASE Olahova, M., Thompson, K., Hardy, S. A., Barbosa, I. A., Besse, A., Anagnostou, M., White, K., Davey, T., Simpson, M. A., Champion, M., Enns, G., Schelley, S., Lightowlers, R. N., Chrzanowska-Lightowlers, Z. M., McFarland, R., Deshpande, C., Bonnen, P. E., Taylor, R. W. 2017; 40 (1): 121-130
View details for DOI 10.1007/s10545-016-9977-2
View details for Web of Science ID 000391132500009