rs778153326
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1.
|
24332224 |
2014 |
rs778153326
|
GCDH;SYCE2
|
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 |
rs778153326
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.
|
22106832 |
2012 |
rs778153326
|
GCDH;SYCE2
|
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 |
rs778153326
|
GCDH;SYCE2
|
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 |
rs778153326
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.
|
9711871 |
1998 |
rs778153326
|
GCDH;SYCE2
|
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 |
rs778153326
|
GCDH;SYCE2
|
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 |
rs778153326
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Glutaric aciduria type I in the Arab and Jewish communities in Israel.
|
8900228 |
1996 |
rs778153326
|
GCDH;SYCE2
|
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 |