Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

Human mutation

Volumn 21, Issue 6, 2003, Pages 656-

  Baris, Olivier ^a   Delettre, Cécile ^a   Amati Bonneau, Patrizia ^a   Surget, Marie Odile ^a   Charlin, Jean François ^a   Catier, Antoine ^a   Derieux, Laurence ^a   Guyomard, Jean Laurent ^a   Dollfus, Hélène ^a   Jonveaux, Philippe ^a   Ayuso, Carmen ^a   Maumenee, Irene ^a   Lorenz, Birgit ^a   Mohammed, Shehla ^a   Tourmen, Yves ^a   Bonneau, Dominique ^a   Malthièry, Yves ^a   Hamel, Christian ^a   Reynier, Pascal ^a  

^a ANGERS UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GUANOSINE TRIPHOSPHATASE; OPA1 PROTEIN, HUMAN;

ALTERNATIVE RNA SPLICING; ARTICLE; AUTOSOMAL DOMINANT OPTIC ATROPHY; CHEMISTRY; ENZYMOLOGY; GENE DELETION; GENE EXPRESSION REGULATION; GENETICS; HUMAN; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; OPTIC NERVE ATROPHY; PATHOLOGY; PHENOTYPE; STOP CODON;

ALTERNATIVE SPLICING; CODON, NONSENSE; DNA; DNA MUTATIONAL ANALYSIS; GTP PHOSPHOHYDROLASES; HUMANS; MUTAGENESIS, INSERTIONAL; MUTATION; MUTATION, MISSENSE; OPTIC ATROPHY; OPTIC ATROPHY, AUTOSOMAL DOMINANT; PHENOTYPE; SEQUENCE DELETION;

MLCS; MLOWN;

EID: 1442307728     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9152     Document Type: Article

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