rs397514650
×
Entrez Id:
1738
Gene Symbol:
DLD
DLD
NADH cytochrome B5 reductase deficiency
0.800
GeneticVariation
UNIPROT
Interaction of E1 and E3 components with the core proteins of the human pyruvate dehydrogenase complex.
20160912
2009
rs397514650
×
Entrez Id:
1738
Gene Symbol:
DLD
DLD
NADH cytochrome B5 reductase deficiency
0.800
GeneticVariation
UNIPROT
Cryptic proteolytic activity of dihydrolipoamide dehydrogenase.
17404228
2007
rs397514650
×
Entrez Id:
1738
Gene Symbol:
DLD
DLD
NADH cytochrome B5 reductase deficiency
0.800
GeneticVariation
UNIPROT
Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex.
16442803
2006
rs397514650
×
Entrez Id:
1738
Gene Symbol:
DLD
DLD
NADH cytochrome B5 reductase deficiency
0.800
GeneticVariation
UNIPROT
Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.
16770810
2006
rs397514650
×
Entrez Id:
1738
Gene Symbol:
DLD
DLD
NADH cytochrome B5 reductase deficiency
0.800
GeneticVariation
UNIPROT
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
15712224
2005
rs397514650
×
Entrez Id:
1738
Gene Symbol:
DLD
DLD
NADH cytochrome B5 reductase deficiency
0.800
GeneticVariation
UNIPROT
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.
12925875
2003
rs397514650
×
Entrez Id:
1738
Gene Symbol:
DLD
DLD
NADH cytochrome B5 reductase deficiency
0.800
GeneticVariation
UNIPROT
Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency.
11687750
2002
rs397514650
×
Entrez Id:
1738
Gene Symbol:
DLD
DLD
NADH cytochrome B5 reductase deficiency
0.800
GeneticVariation
UNIPROT
Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews.
9934985
1999
rs397514650
×
Entrez Id:
1738
Gene Symbol:
DLD
DLD
NADH cytochrome B5 reductase deficiency
0.800
GeneticVariation
UNIPROT
Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain.
10448086
1999
rs397514650
×
Entrez Id:
1738
Gene Symbol:
DLD
DLD
NADH cytochrome B5 reductase deficiency
0.800
GeneticVariation
UNIPROT
Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del). Analysis of a family and prenatal testing.
9540846
1997
rs397514650
×
Entrez Id:
1738
Gene Symbol:
DLD
DLD
NADH cytochrome B5 reductase deficiency
0.800
GeneticVariation
UNIPROT
Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency.
8968745
1996
rs397514650
×
Entrez Id:
1738
Gene Symbol:
DLD
DLD
NADH cytochrome B5 reductase deficiency
0.800
GeneticVariation
UNIPROT
Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient.
8506365
1993
rs397514650
×
Entrez Id:
1738
Gene Symbol:
DLD
DLD
NADH cytochrome B5 reductase deficiency
G
0.800
CausalMutation
CLINVAR