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

Journal of Hepatology

Volumn 56, Issue 1, 2012, Pages 294-297

  Vedrenne, Vanessa ^a   Galmiche, Louise ^a   Chretien, Dominique ^a   De Lonlay, Pascale ^a   Munnich, Arnold ^a   Rötig, Agns ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Liver failure; Mitochondria; Mitochondrial translation; Respiratory chain; TSFM

Indexed keywords

ARGININE; ELONGATION FACTOR; LACTIC ACID; TRYPTOPHAN;

AMINO ACID SUBSTITUTION; ANEMIA; ARTICLE; CASE REPORT; CHOLESTASIS; CYTOLYSIS; DYSTONIA; FEEDING DISORDER; FEMALE; GENE IDENTIFICATION; GENETIC CODE; HOMOZYGOSITY; HUMAN; HYPERLACTATEMIA; HYPERTROPHIC CARDIOMYOPATHY; INFANT DISEASE; INTRAUTERINE GROWTH RETARDATION; JAUNDICE; KIDNEY TUBULE DISORDER; LACTIC ACIDOSIS; LIVER DYSFUNCTION; LIVER FAILURE; MULTIMINICORE DISEASE; MUSCLE HYPOTONIA; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL; RESPIRATORY CHAIN; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSLATION INITIATION;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; DNA, MITOCHONDRIAL; FEMALE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; LIVER FAILURE, ACUTE; MALE; MITOCHONDRIAL DISEASES; MUTATION, MISSENSE; PEDIGREE; PEPTIDE ELONGATION FACTORS;

EID: 83555162510     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jhep.2011.06.014     Document Type: Article

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