Mutation spectrum and splicing variants in the OPA1 gene

Human Genetics

Volumn 109, Issue 6, 2001, Pages 584-591

  Delettre, Cécile ^a   Griffoin, Jean Michel ^a   Kaplan, Josseline ^b   Dollfus, Hélène ^c   Lorenz, Birgit ^d   Faivre, Laurence ^e   Lenaers, Guy ^f   Belenguer, Pascale ^f   Hamel, Christian P ^a  

^a INSERM   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c HÔPITAL DE HAUTEPIERRE   (France)

^d UNIVERSITY OF REGENSBURG   (Germany)

^e Medical University of Dijon   (France)

^f Université de Toulouse Paul Sabatier   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; DYNAMIN; GUANOSINE TRIPHOSPHATASE; ISOPROTEIN; MESSENGER RNA;

ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; ARTICLE; BLINDNESS; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; DOMINANT INHERITANCE; ENZYME ACTIVITY; EXON; GENE MUTATION; GENETIC CODE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; MITOCHONDRIAL GENETICS; NUCLEOTIDE SEQUENCE; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN INTERACTION; PROTEIN MODIFICATION; RNA SPLICING; VISUAL ACUITY;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; CHROMOSOMES, HUMAN, PAIR 3; EXONS; FRAMESHIFT MUTATION; GENETIC SCREENING; GTP PHOSPHOHYDROLASES; HUMANS; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; MUTATION, MISSENSE; OPTIC ATROPHY, AUTOSOMAL DOMINANT; POINT MUTATION; POLYMORPHISM, GENETIC; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0035683581     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-001-0633-y     Document Type: Article

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