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[DOI] [PubMed] [Google Scholar] 44.Song W, Song G, Zhao C, Li X, Pei X, Zhao W, et al
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Interventions to improve mitochondrial function in a mouse model of GRACILE syndrome, a complex III disorder Time : 05 April 2019 12:00 Place : Haartman Institute, Lecture Hall 2, Haartmaninkatu 3, 00290 Helsinki Opponent : Professor Cristina Ugalde, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain Custos : Professori Markku Heikinheimo Abstract : A rare homozygous BCS1Lc.A232G (Ser78Gly, p.S78G) mutation in infants causes GRACILE syndrome, which is a severe mitochondrial respiratory chain complex III (CIII) disorder resulting in multiple organ dysfunction and early lethality
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