×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
0.910
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
0.910
Biomarker
disease
GENOMICS_ENGLAND
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
25655951
2015
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
0.910
Biomarker
disease
GENOMICS_ENGLAND
Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.
24020637
2014
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
0.910
Biomarker
disease
BEFREE
Cellular and animal models for mitochondrial complex I deficiency : a focus on the NDUFS4 subunit.
23378164
2013
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
0.910
GermlineCausalMutation
disease
ORPHANET
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.
22644603
2012
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
0.910
Biomarker
disease
MGD
NDUFS4: creation of a mouse model mimicking a Complex I disorder.
19460290
2009
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
0.910
GeneticVariation
disease
UNIPROT
NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.
19364667
2009
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
0.910
GeneticVariation
disease
UNIPROT
A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family.
19107570
2008
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
0.910
GeneticVariation
disease
UNIPROT
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.
12616398
2003
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
0.910
GeneticVariation
disease
UNIPROT
A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome.
11181577
2001
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
0.910
Biomarker
disease
GENOMICS_ENGLAND
A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome.
11181577
2001
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
0.910
GeneticVariation
disease
UNIPROT
Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene.
10944442
2000
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
0.910
GermlineCausalMutation
disease
ORPHANET
Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.
9463323
1998
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
0.910
GeneticVariation
disease
UNIPROT
Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.
9463323
1998
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
0.910
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
0.910
Biomarker
disease
CTD_human
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
0.910
CausalMutation
disease
CLINVAR