|
Optic Atrophy 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.
|
23401657 |
2013 |
|
Optic Atrophy 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.
|
22857269 |
2012 |
|
Optic Atrophy 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy.
|
22382025 |
2012 |
|
Optic Atrophy 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel mutations of the OPA1 gene in Chinese dominant optic atrophy.
|
19969356 |
2010 |
|
Optic Atrophy 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation.
|
20185555 |
2010 |
|
Optic Atrophy 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
|
19319978 |
2009 |
|
Optic Atrophy 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect.
|
19325939 |
2009 |
|
Optic Atrophy 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Reversible optic neuropathy with OPA1 exon 5b mutation.
|
18360822 |
2008 |
|
Optic Atrophy 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation.
|
18204809 |
2008 |
|
Optic Atrophy 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy.
|
16513463 |
2006 |
|
Optic Atrophy 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy.
|
16617242 |
2006 |
|
Optic Atrophy 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Dominant optic atrophy: correlation between clinical and molecular genetic studies.
|
15948788 |
2005 |
|
Optic Atrophy 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.
|
14961560 |
2003 |
|
Optic Atrophy 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.
|
12566046 |
2003 |
|
Optic Atrophy 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.
|
12036970 |
2002 |
|
Optic Atrophy 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.
|
11440989 |
2001 |
|
Optic Atrophy 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.
|
11440988 |
2001 |
|
Optic Atrophy 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation spectrum and splicing variants in the OPA1 gene.
|
11810270 |
2001 |
|
Optic Atrophy 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.
|
11017080 |
2000 |
|
Optic Atrophy 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.
|
11017079 |
2000 |