rs121434370
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
A
0.800
GeneticVariation
CLINVAR
rs121434370
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
0.800
GeneticVariation
UNIPROT
Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.
8541831
1995
rs121434370
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
0.800
GeneticVariation
UNIPROT
Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).
18775954
2008
rs121434370
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
0.800
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
rs121434370
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
A
0.800
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
rs121434370
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
0.800
GeneticVariation
UNIPROT
Glutaric aciduria type I in the Arab and Jewish communities in Israel.
8900228
1996
rs121434370
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
A
0.800
CausalMutation
CLINVAR
Glutaric aciduria type I: outcome in the Republic of Ireland.
15505400
2004
rs121434370
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
0.800
GeneticVariation
UNIPROT
Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.
24973495
2014
rs121434370
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
0.800
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
rs121434370
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
0.800
GeneticVariation
UNIPROT
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
9600243
1998