Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase

American Journal of Human Genetics

Volumn 82, Issue 6, 2008, Pages 1281-1289

  Massa, Valeria ^a   Fernandez Vizarra, Erika ^a   Alshahwan, Saad ^b   Bakhsh, Eman ^b   Goffrini, Paola ^c   Ferrero, Ileana ^c   Mereghetti, Paolo ^d   D'Adamo, Pio ^e   Gasparini, Paolo ^e   Zeviani, Massimo ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b The General Directorate of Armed Forces Health Services   (Saudi Arabia)

^c UNIVERSITY OF PARMA   (Italy)

^d UNIVERSITY OF MILANO BICOCCA   (Italy)

^e INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE;

ARTICLE; CASE REPORT; CONTROLLED STUDY; CYTOCHROME C OXIDASE 6 B1 GENE; CYTOCHROME C OXIDASE DEFICIENCY; ENCEPHALOMYOPATHY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC SCREENING; HUMAN; HUMAN CELL; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; BRAIN; BRAIN DISEASES, METABOLIC, INBORN; CELL NUCLEUS; CHILD; CYTOCHROME-C OXIDASE DEFICIENCY; ELECTRON TRANSPORT COMPLEX IV; FEMALE; GENETIC COMPLEMENTATION TEST; HAPLOTYPES; HELA CELLS; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; PROTEIN CONFORMATION; RNA INTERFERENCE; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 45449121006     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2008.05.002     Document Type: Article

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