rs61732144
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency.
|
24485985 |
2014 |
rs61732144
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center's experience.
|
22241096 |
2012 |
rs61732144
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase.
|
21170680 |
2011 |
rs61732144
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidants.
|
21483766 |
2011 |
rs61732144
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.
|
18054510 |
2008 |
rs61732144
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.
|
18676165 |
2008 |
rs61732144
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
CausalMutation
|
CLINVAR |
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.
|
18523805 |
2008 |
rs61732144
|
|
Deficiency of butyryl-CoA dehydrogenase
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
|
11134486 |
2001 |
rs61732144
|
|
Deficiency of butyryl-CoA dehydrogenase
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.
|
9499414 |
1998 |
rs61732144
|
|
Deficiency of butyryl-CoA dehydrogenase
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency.
|
1692038 |
1990 |
rs61732144
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency.
|
1692038 |
1990 |