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

Journal of medical genetics

Volumn 41, Issue 9, 2004, Pages

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

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

OPA3 PROTEIN, HUMAN; PROTEIN; STAUROSPORINE;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; APOPTOSIS; AUTOSOMAL DOMINANT OPTIC ATROPHY; CASE REPORT; CATARACT; CELL MEMBRANE POTENTIAL; CHEMISTRY; CHILD; DOMINANT GENE; DRUG EFFECT; FEMALE; FIBROBLAST; FRANCE; GENETIC LINKAGE; GENETICS; HUMAN; INFANT; LETTER; MALE; METABOLISM; MIDDLE AGED; MISSENSE MUTATION; MITOCHONDRION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; APOPTOSIS; CATARACT; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROBLASTS; FRANCE; GENES, DOMINANT; HUMANS; INFANT; LOD SCORE; MALE; MEMBRANE POTENTIALS; MIDDLE AGED; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OPTIC ATROPHY, AUTOSOMAL DOMINANT; PEDIGREE; PROTEINS; STAUROSPORINE;

EID: 17644401441     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2003.016576     Document Type: Letter

References (0)