Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.

Journal of medical genetics

Volumn 42, Issue 5, 2005, Pages

  Bugiani, M ^a   Tiranti, V ^a   Farina, L ^a   Uziel, G ^a   Zeviani, M ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE;

ADOLESCENT; ARTICLE; BRAIN; CASE REPORT; CYTOCHROME C OXIDASE DEFICIENCY; FIBROBLAST; GENETICS; HUMAN; LEIGH DISEASE; MALE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; SURVIVOR;

ADOLESCENT; BRAIN; CYTOCHROME-C OXIDASE DEFICIENCY; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX IV; FIBROBLASTS; HUMANS; LEIGH DISEASE; MALE; MUTATION; SURVIVORS;

EID: 33645747992     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2004.029926     Document Type: Article

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