TY  - GEN
AU  - Reynier,P
AU  - Amati-Bonneau,P
AU  - Verny,C
AU  - Olichon,A
AU  - Simard,G
AU  - Guichet,A
AU  - Bonnemains,C
AU  - Malecaze,F
AU  - Malinge,M C
AU  - Pelletier,J B
AU  - Calvas,P
AU  - Dollfus,H
AU  - Belenguer,P
AU  - Malthièry,Y
AU  - Lenaers,G
AU  - Bonneau,D
TI  - OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
SN  - 1468-6244
PY  - 2005///0505
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Aged, 80 and over
KW  - Amino Acid Sequence
KW  - Apoptosis
KW  - drug effects
KW  - Cataract
KW  - complications
KW  - Child
KW  - DNA Mutational Analysis
KW  - Female
KW  - Fibroblasts
KW  - France
KW  - Genes, Dominant
KW  - genetics
KW  - Humans
KW  - Infant
KW  - Lod Score
KW  - Male
KW  - Membrane Potentials
KW  - Middle Aged
KW  - Mitochondria
KW  - metabolism
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Optic Atrophy, Autosomal Dominant
KW  - Pedigree
KW  - Proteins
KW  - chemistry
KW  - Staurosporine
KW  - pharmacology
N1  - Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmg.2003.016576
ER  -