Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

Nature Genetics

Volumn 26, Issue 2, 2000, Pages 207-210

  Delettre, Cécile ^a   Lenaers, Guy ^b   Griffoin, Jean Michel ^a   Gigarel, Nadine ^c   Lorenzo, Corinne ^b   Belenguer, Pascale ^b   Pelloquin, Laetitia ^b   Grosgeorge, Josiane ^d   Turc Carel, Claude ^d   Perret, Eric ^e   Astarie Dequeker, Catherine ^f   Lasquellec, Laetitia ^g   Arnaud, Bernard ^g   Ducommun, Bernard ^b   Kaplan, Josseline ^c   Hamel, Christian P ^a,g  

^a INSERM   (France)

^b UNIVERSITÉ DE TOULOUSE   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d UNIVERSITÉ CÔTE D'AZUR   (France)

^e SANOFI   (France)

^f INSTITUT DE PHARMACOLOGIE ET DE BIOLOGIE STRUCTURALE   (France)

^g GUI DE CHAULIAC HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN;

ARTICLE; BLINDNESS; CHROMOSOME 3Q; CLINICAL ARTICLE; DOMINANT INHERITANCE; FEMALE; FRAMESHIFT MUTATION; GENE LOCATION; GENE MAPPING; HEREDITARY OPTIC ATROPHY; HUMAN; MALE; MISSENSE MUTATION; MITOCHONDRION; NONHUMAN; NUCLEOTIDE SEQUENCE; OPTIC NERVE ATROPHY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RETINA GANGLION CELL;

AMINO ACID SEQUENCE; CELL NUCLEUS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; DYNAMINS; EXONS; FEMALE; GENES, DOMINANT; GTP PHOSPHOHYDROLASES; HUMAN; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION; OPTIC ATROPHY; PEDIGREE; POLYMORPHISM (GENETICS); SACCHAROMYCES CEREVISIAE; SCHIZOSACCHAROMYCES; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; SUPPORT, NON-U.S. GOV'T;

EID: 20244381365     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/79936     Document Type: Article

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