Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

American Journal of Human Genetics

Volumn 80, Issue 1, 2007, Pages 44-58

  Valente, Lucia ^a   Tiranti, Valeria ^a   Marsano, René Massimiliano ^d   Malfatti, Edoardo ^a,e   Fernandez Vizarra, Erika ^a   Donnini, Claudia ^d   Mereghetti, Paolo ^b   De Gioia, Luca ^b   Burlina, Alberto ^f   Castellan, Claudio ^g   Comi, Giacomo P ^c   Savasta, Salvatore ^h   Ferrero, Iliana ^d   Zeviani, Massimo ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b UNIVERSITY OF MILANO BICOCCA   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

^d UNIVERSITY OF PARMA   (Italy)

^e UNIVERSITY OF SIENA   (Italy)

^f UNIVERSITY OF PADOVA   (Italy)

^g Regional Public Health Agency   (Italy)

^h UNIVERSITY OF PAVIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CELL NUCLEUS DNA; ELONGATION FACTOR 1; ELONGATION FACTOR TU; MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; MITOCHONDRIAL RNA;

ALLELE; ANIMAL TISSUE; ARTICLE; CASE REPORT; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC COMPLEMENTATION; HOMEOSTASIS; HUMAN; HUMAN CELL; IN VIVO STUDY; INFANT; LACTIC ACIDOSIS; LEIGH DISEASE; LEUKODYSTROPHY; MAMMAL CELL; MICROGYRIA; MITOCHONDRIAL ENCEPHALOPATHY; MITOCHONDRIAL GENE; MOLECULAR MODEL; NONHUMAN; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN STRUCTURE; PROTEIN SYNTHESIS; RNA TRANSLATION; STRUCTURE ANALYSIS; TRANSLATION REGULATION; YEAST CELL;

MAMMALIA;

EID: 33846006253     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/510559     Document Type: Article

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