OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.

Reynier, P; Amati-Bonneau, P; Verny, C; Olichon, A; Simard, G; Guichet, A; Bonnemains, C; Malecaze, F; Malinge, M C; Pelletier, J B; Calvas, P; Dollfus, H; Belenguer, P; Malthièry, Y; Lenaers, G; Bonneau, D

Reynier, P; Amati-Bonneau, P; Verny, C; Olichon, A; Simard, G; Guichet, A; Bonnemains, C; Malecaze, F; Malinge, M C; Pelletier, J B; Calvas, P; Dollfus, H; Belenguer, P; Malthièry, Y; Lenaers, G; Bonneau, D.

J Med Genet ; 41(9): e110, 2004 Sep.

Article in En | MEDLINE | ID: mdl-15342707

Subject(s)

Cataract/complications; Cataract/genetics; Genes, Dominant/genetics; Mutation, Missense/genetics; Optic Atrophy, Autosomal Dominant/complications; Optic Atrophy, Autosomal Dominant/genetics; Proteins/genetics; Adolescent; Adult; Aged; Aged, 80 and over; Amino Acid Sequence; Apoptosis/drug effects; Child; DNA Mutational Analysis; Female; Fibroblasts; France; Humans; Infant; Lod Score; Male; Membrane Potentials; Middle Aged; Mitochondria/metabolism; Molecular Sequence Data; Pedigree; Proteins/chemistry; Staurosporine/pharmacology

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cataract / Proteins / Mutation, Missense / Optic Atrophy, Autosomal Dominant / Genes, Dominant Limits: Adolescent / Adult / Aged / Aged80 / Child / Female / Humans / Infant / Male / Middle aged Country/Region as subject: Europa Language: En Journal: J Med Genet Year: 2004 Document type: Article

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