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Title[redir]:
Acute Infantile Liver Failure Due to Mutations in the TRMU Gene - PMC
Description:
Acute liver failure in infancy accompanied by lactic acidemia was previously shown to result from mtDNA depletion. We report on 13 unrelated infants who presented with acute liver failure and lactic acidemia with normal mtDNA content. Four died ...
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Keywords {🔍}
patients, mitochondrial, doi, liver, trmu, mutation, patient, mutations, acute, trnas, gene, pubmed, google, scholar, failure, rna, months, control, mtdna, presented, normal, figure, activity, fibroblasts, dna, translation, pmc, identified, trna, age, obtained, tissue, ncbi, nlm, genet, reduced, performed, yrs, open, complex, human, cysteine, table, tab, normalized, similar, conserved, hybridization, content, search,
Topics {✒️}
[32p]-5′-end-labeled oligonucleotide probes mitochondria-specific trna-modifying enzyme anne-marie mager-heckel 5 pale-gray skin color tris-borate buffer polymerized acroylamino-phenyl-mercuric chloride phosphorothioate-substituted nucleic acids trna 5-methylaminomethyl-2-thiouridylate methyltransferase pmc beta search flanking intronic regions identified life-threatening condition manifested web resources mitochondrial trna-leu transcript pmc copyright notice long term follow extensive oncocytic change thio-modified mitochondrial trnas infantile liver failure msli restriction site publisher site pdf efficient ribosome binding mitochondrial membrane protein human mitochondrial diseases ncbi conserved domains license information pmcid masson trichrome stain respiratory chain defects highly conserved tyr77 nuclear genome—suggested acute liver failure multiple organ failure mitochondrial ribosomal assembly impaired myocardial contractility hadassah medical organization human trmu gene cultured human cells mitochondrial trna-lys mitochondrial trna-leu mitochondrial thymidine kinase thermophile-specific 2-thiouridylation mitochondrial gene encoding quantified mitochondrial translation liver functions returned mitochondrial dna depletion developing liver failure united states government active git bleeding gamma glutamyl transpeptidase bone marrow aspiration nerve conduction velocity
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