rs121434373
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Speech disturbances in patients with dystonia or chorea due to neurometabolic disorders.
|
20629163 |
2010 |
rs121434373
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Glutaric acidemia type 1: outcomes before and after expanded newborn screening.
|
22728054 |
2012 |
rs121434373
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Both siblings have high residual glutaryl-CoA dehydrogenase activity, and are compound heterozygotes for two mutations - R227P and V400M reported to be disease-causing in patients with glutaric aciduria type I.
|
9881681 |
1998 |
rs121434373
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.
|
15505393 |
2004 |
rs121434373
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.
|
8900227 |
1996 |
rs121434373
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
|
29665094 |
2018 |
rs121434373
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion.
|
9266361 |
1997 |
rs121434373
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.
|
30570710 |
2019 |
rs121434373
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria.
|
10066389 |
1999 |
rs121434373
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.
|
8900227 |
1996 |
rs121434373
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis.
|
23395213 |
2013 |
rs121434373
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Glutaric aciduria type I: outcome following detection by newborn screening.
|
18683078 |
2008 |
rs121434373
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Mutation analysis in glutaric aciduria type I.
|
10699052 |
2000 |
rs121434373
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Glutaric aciduria type I in the Arab and Jewish communities in Israel.
|
8900228 |
1996 |
rs121434373
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).
|
18775954 |
2008 |
rs121434373
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
|
9600243 |
1998 |
rs121434373
|
|
|
0.820 |
GeneticVariation |
BEFREE |
To contribute to a better molecular understanding of GA-I we undertook a detailed molecular study on two GCDH disease-related variants, GCDH-p.Arg227Pro and GCDH-p.Val400Met.
|
31491587 |
2020 |
rs121434373
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.
|
24973495 |
2014 |
rs121434373
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
|
14707522 |
2003 |
rs121434373
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
|
10960496 |
2000 |
rs121434373
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype.
|
12872844 |
2003 |
rs121434373
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I.
|
11073722 |
2000 |
rs121434373
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Prenatal molecular diagnosis of glutaric aciduria type I by direct mutation analysis.
|
11015709 |
2000 |
rs121434373
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Biochemistry of glutaric aciduria type I: activities of in vitro expressed wild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase.
|
10384381 |
1999 |
rs121434373
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.
|
8541831 |
1995 |