A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome

Human Molecular Genetics

Volumn 9, Issue 18, 2000, Pages 2733-2742

  Tiranti, Valeria ^a   Corona, Paola ^a   Greco, Marilena ^a   Taanman, Jan Willem ^b   Carrara, Franco ^a   Lamantea, Eleonora ^a   Nijtmans, Leo ^c   Uziel, Graziella ^a   Zeviani, Massimo ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; MONOCLONAL ANTIBODY; NUCLEOTIDE;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; ELECTROPHORETIC MOBILITY; ENZYME DEFECT; ENZYME SUBUNIT; FEMALE; FIBROBLAST; FRAMESHIFT MUTATION; GENE INSERTION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IN VIVO STUDY; LACTIC ACIDOSIS; LEIGH DISEASE; MENTAL DEFICIENCY; MUSCLE BIOPSY; OPHTHALMOPLEGIA; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PUTAMEN; RNA TRANSLATION; SEQUENCE ANALYSIS; SKIN BIOPSY; SPASTIC PARAPLEGIA; WESTERN BLOTTING;

EID: 0034327415     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.18.2733     Document Type: Article

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