Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

Annals of Neurology

Volumn 56, Issue 5, 2004, Pages 734-738

  Miller, Chaya ^a   Saada, Ann ^a   Shaul, Nava ^a   Shabtai, Naama ^a   Ben Shalom, Efrat ^a   Shaag, Avraham ^a   Hershkovitz, Eli ^b   Elpeleg, Orly ^a,c  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

^b BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^c HEBREW UNIVERSITY OF JERUSALEM   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; PROTEIN MRPS16; RIBOSOME PROTEIN; RIBOSOME RNA; RNA 12S; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; DNA REPLICATION; DNA TRANSCRIPTION; ENZYME ACTIVITY; FACE DYSMORPHIA; FATALITY; FEMALE; GENE MUTATION; HUMAN; LACTIC ACIDOSIS; MITOCHONDRIAL DNA DISORDER; MITOCHONDRIAL RESPIRATION; MITOCHONDRIAL TRANSLATION DEFECT; NEWBORN; NEWBORN DISEASE; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN SYNTHESIS; RESPIRATORY CHAIN; RNA TRANSCRIPTION;

ALKYL AND ARYL TRANSFERASES; BLOTTING, NORTHERN; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; FIBROBLASTS; HUMANS; INFANT, NEWBORN; MEMBRANE PROTEINS; MITOCHONDRIAL DISEASES; MUTATION; RIBOSOMAL PROTEINS; RNA, RIBOSOMAL;

EID: 9144268494     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20282     Document Type: Article

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