×
Entrez Id:
445
Gene Symbol:
ASS1
ASS1
0.550
Biomarker
disease
CLINGEN
Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.
28111830
2017
×
Entrez Id:
445
Gene Symbol:
ASS1
ASS1
0.550
AlteredExpression
disease
BEFREE
Classical citrullinemia (CTLN1) is an inborn error of the urea cycle caused by reduced/abolished activity of argininosuccinate synthetase due to mutations in the ASS1 gene.
25179242
2015
×
Entrez Id:
445
Gene Symbol:
ASS1
ASS1
0.550
Biomarker
disease
CLINGEN
High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations.
23246278
2013
×
Entrez Id:
445
Gene Symbol:
ASS1
ASS1
0.550
Biomarker
disease
CLINGEN
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
19006241
2009
×
Entrez Id:
445
Gene Symbol:
ASS1
ASS1
0.550
GeneticVariation
disease
BEFREE
Mild citrullinemia is an allelic variant of classical citrullinemia type I also caused by deficiency of the urea cycle enzyme argininosuccinate synthetase (ASS ).
18473344
2008
×
Entrez Id:
445
Gene Symbol:
ASS1
ASS1
0.550
Biomarker
disease
CLINGEN
Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia.
16475226
2006
×
Entrez Id:
445
Gene Symbol:
ASS1
ASS1
0.550
GeneticVariation
disease
BEFREE
Classical citrullinemia (CTLN1), a rare autosomal recessive disorder, is caused by mutations of the argininosuccinate synthetase (ASS ) gene, localized on chromosome 9q34.1.
12815590
2003
×
Entrez Id:
445
Gene Symbol:
ASS1
ASS1
0.550
Biomarker
disease
CLINGEN
Correction of argininosuccinate synthetase (AS) deficiency in a murine model of citrullinemia with recombinant adenovirus carrying human AS cDNA.
11083500
2000
×
Entrez Id:
445
Gene Symbol:
ASS1
ASS1
0.550
Biomarker
disease
CLINGEN
Hepatocyte gene therapy in a large animal: a neonatal bovine model of citrullinemia.
10097149
1999
×
Entrez Id:
445
Gene Symbol:
ASS1
ASS1
0.550
GeneticVariation
disease
BEFREE
We have previously identified 20 mutations in ASS mRNA of human classical citrullinemia and already established the DNA diagnosis of seven mutations as follows.
9090528
1997
×
Entrez Id:
445
Gene Symbol:
ASS1
ASS1
0.550
GeneticVariation
disease
BEFREE
Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia .
7557970
1995
×
Entrez Id:
445
Gene Symbol:
ASS1
ASS1
0.550
Biomarker
disease
CLINGEN
Generation of a mouse model for citrullinemia by targeted disruption of the argininosuccinate synthetase gene.
8197477
1994
×
Entrez Id:
445
Gene Symbol:
ASS1
ASS1
0.550
Biomarker
disease
CLINGEN
Analysis of a splice acceptor site mutation which produces multiple splicing abnormalities in the human argininosuccinate synthetase locus.
2246255
1990
×
Entrez Id:
445
Gene Symbol:
ASS1
ASS1
0.550
Biomarker
disease
CLINGEN
Urea cycle enzymopathies.
6763345
1982
×
Entrez Id:
445
Gene Symbol:
ASS1
ASS1
0.550
Biomarker
disease
CTD_human