Leigh Disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Leigh Disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Leigh Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.
|
9837813 |
1998 |
Leigh Disease
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.
|
9837813 |
1998 |
Leigh Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.
|
9837813 |
1998 |
Leigh Disease
|
1.000 |
Biomarker
|
disease |
CLINGEN |
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.
|
9843204 |
1998 |
Leigh Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.
|
9843204 |
1998 |
Leigh Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.
|
9843204 |
1998 |
Leigh Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Sequence conservation from human to prokaryotes of Surf1, a protein involved in cytochrome c oxidase assembly, deficient in Leigh syndrome.
|
10622737 |
1999 |
Leigh Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Very recently, however, a Leigh syndrome complementation group has been identified which showed mutations in the SURFEIT-1 (SURF-1) gene.
|
10558868 |
1999 |
Leigh Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The clinical phenotype caused by mutations in human SCO2 differs from that caused by mutations in SURF1, the only other known COX assembly gene associated with a human disease, Leigh syndrome.
|
10545952 |
1999 |
Leigh Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Loss of function of SURF-1 protein is specifically associated with LS(COX), although a proportion of LS(COX) cases must be the result of abnormalities in genes other than SURF-1.
|
10443880 |
1999 |
Leigh Disease
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Loss of function of SURF-1 protein is specifically associated with LS(COX), although a proportion of LS(COX) cases must be the result of abnormalities in genes other than SURF-1.
|
10443880 |
1999 |
Leigh Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We identified two novel mutations of SURF1 in a Japanese LS patient with COX deficiency using direct sequencing analysis.
|
10647889 |
1999 |
Leigh Disease
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Loss-of-function mutations of the SURF-1 gene have been associated with Leigh syndrome with cytochrome c oxidase (COX) deficiency.
|
10556302 |
1999 |
Leigh Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Leigh syndrome transmitted by uniparental disomy of chromosome 9.
|
10636738 |
1999 |
Leigh Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency.
|
10556303 |
1999 |
Leigh Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.
|
10558868 |
1999 |
Leigh Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified two novel mutations of SURF1 in a Japanese LS patient with COX deficiency using direct sequencing analysis.
|
10647889 |
1999 |
Leigh Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations of the SURF-1 gene have been associated with Leigh syndrome with cytochrome c oxidase (COX) deficiency.
|
10556302 |
1999 |
Leigh Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.
|
10746561 |
2000 |
Leigh Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.
|
10746561 |
2000 |
Leigh Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.
|
10746561 |
2000 |
Leigh Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency.
|
10899453 |
2000 |
Leigh Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
The three genes indicted, SURF1 for Leigh syndrome, COX 10 for leukodystrophy and tubulopathy, and SCO2 for the cardiomyopathic form, all have a role in the assembly of the mature cytochrome oxidase complex.
|
11044474 |
2000 |