OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

Nature Genetics

Volumn 26, Issue 2, 2000, Pages 211-215

  Alexander, Christiane ^a,b   Votruba, Marcela ^a,c   Pesch, Ulrike E A ^b   Thiselton, Dawn L ^a   Mayer, Simone ^b   Moore, Anthony ^c,d   Rodriguez, Miguel ^e   Kellner, Ulrich ^f   Leo Kottler, Beate ^b   Auburger, Georg ^g   Bhattacharya, Shomi S ^a   Wissinger, Bernd ^b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^c MOORFIELDS EYE HOSPITAL   (United Kingdom)

^d ADDENBROOKE S HOSPITAL   (United Kingdom)

^e Center of Medical Genetics and Primary Health Care   (Armenia)

^f CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^g NONE

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATASE;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLINDNESS; CHROMOSOME 3Q; CONTIG MAPPING; EXON; GENE DELETION; GENE EXPRESSION; GENE INSERTION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEGREGATION; HUMAN; MISSENSE MUTATION; MITOCHONDRIAL MEMBRANE; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; SCOTOMA; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; ANIMAL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; DNA MUTATIONAL ANALYSIS; DROSOPHILA; DYNAMINS; EXONS; FEMALE; GENES, DOMINANT; GENETIC MARKERS; GTP PHOSPHOHYDROLASES; HUMAN; INTRONS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUTATION; OPTIC ATROPHY; PEDIGREE; SACCHAROMYCES CEREVISIAE; SALMON; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; SUPPORT, NON-U.S. GOV'T;

EID: 0033772264     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/79944     Document Type: Article

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