OPA1 (Kjer type) dominant optic atrophy: A novel mitochondrial disease

Molecular Genetics and Metabolism

Volumn 75, Issue 2, 2002, Pages 97-107

  Delettre, Cécile ^a   Lenaers, Guy ^b   Pelloquin, Laeticia ^b   Belenguer, Pascale ^b   Hamel, Christian P ^a  

^a INSERM   (France)

^b Université de Toulouse Paul Sabatier   (France)

Author keywords

Dynamin; Mitochondria; Mutation spectrum; OPA1; Optic atrophy; Retinal ganglion cell

Indexed keywords

DYNAMIN; GUANOSINE TRIPHOSPHATASE;

ALLELE; AMINO TERMINAL SEQUENCE; CARBOXY TERMINAL SEQUENCE; CHROMOSOME 3Q; COLOR VISION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DOMINANT INHERITANCE; EXON; GENE; GENE LOCUS; GENE MUTATION; GLAUCOMA; HAPLOTYPE; HEREDITARY OPTIC ATROPHY; HUMAN; MISSENSE MUTATION; MOLECULAR GENETICS; OPA1 GENE; OPTIC DISK; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN LOCALIZATION; RETINA GANGLION CELL; SHORT SURVEY; VISUAL FIELD;

DOA;

EID: 0036369531     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2001.3278     Document Type: Article

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