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Article

Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure

10 Jul 2011

Abstract excerpt

BACKGROUND & AIMS: Multiple respiratory chain deficiencies represent a common cause of mitochondrial diseases and often result in hepatic failure. A significant fraction of patients present mitochondrial DNA depletion but a number of cases remain unexplained. The aim of our study was to identify the disease causing gene in a kindred with intrauterine growth retardation, neonatal lactic acidosis, liver dysfunction...

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PMID: 21741925
DOI: 10.1016/j.jhep.2011.06.014

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