Mutations in the SURF1 gene associated with Leigh Syndrome and cytochrome c oxidase deficiency

Human Mutation

Volumn 17, Issue 5, 2001, Pages 374-381

  Pquignot, Marie O ^a,b,c,d,e   Dey, Runu ^a,b   Zeviani, Massimo ^a   Tiranti, Valeria ^a,e   Godinot, Catherine ^a,e   Poyau, Alain ^a,e   Sue, Caroline ^a,b,c,d,e   Mauro, Salvatore Di ^e   Abitbol, Marc ^a,b,c,d,e   Marsac, Ccile ^a,e  

^a CNRS   (France)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c CENTRE DE GÉNÉTIQUE MOLÉCULAIRE ET CELLULAIRE   (France)

^d Och Spine at New York Presbyterian Hospitals   (United States)

^e CERTO   (France)

Author keywords

COX; Cytochrome oxidase deficiency; Leigh syndrome; LS; SURF1

Indexed keywords

CYTOCHROME C OXIDASE;

BASAL GANGLION; BRAIN DISEASE; BRAIN STEM; CLINICAL ARTICLE; DISEASE ASSOCIATION; DNA POLYMORPHISM; EXON; GENE DELETION; GENE INSERTION; GENE MUTATION; HUMAN; INTRON; LEIGH DISEASE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVIEW;

AMINO ACID SEQUENCE; BASE SEQUENCE; CYTOCHROME-C OXIDASE DEFICIENCY; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX IV; EXONS; GENE FREQUENCY; GENETIC SCREENING; HUMANS; INTRONS; LEIGH DISEASE; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, GENETIC; PROTEINS; RNA SPLICE SITES; TERMINOLOGY;

EID: 0035039888     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1112     Document Type: Review

References (26)

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