|
Citrullinemia Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.
|
28111830 |
2017 |
|
Citrullinemia Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation.
|
27287393 |
2016 |
|
Citrullinemia Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients.
|
25179242 |
2015 |
|
Citrullinemia Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Improved standards for prenatal diagnosis of citrullinemia.
|
24889030 |
2014 |
|
Citrullinemia Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Prenatal diagnosis of citrullinemia type 1: a Chinese family with a novel mutation of the ASS1 gene.
|
23611581 |
2014 |
|
Citrullinemia Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
|
19006241 |
2009 |
|
Citrullinemia Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Investigation of citrullinemia type I variants by in vitro expression studies.
|
18473344 |
2008 |
|
Citrullinemia Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia.
|
16475226 |
2006 |
|
Citrullinemia Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
"Postpartum ""psychosis"" in mild argininosuccinate synthetase deficiency."
|
15863597 |
2005 |
|
Citrullinemia Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).
|
14680976 |
2003 |
|
Citrullinemia Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
|
12815590 |
2003 |
|
Citrullinemia Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.
|
11941481 |
2002 |
|
Citrullinemia Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Phenotype and genotype heterogeneity in Mediterranean citrullinemia.
|
11708871 |
2001 |
|
Citrullinemia Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.
|
7977368 |
1994 |
|
Citrullinemia Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Additional mutations in argininosuccinate synthetase causing citrullinemia.
|
1943692 |
1991 |
|
Citrullinemia Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.
|
2358466 |
1990 |
|
Citrullinemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
The authors present a case of citrullinemia with a genotype of argininosuccinate synthetase (ASS1), c.380 G>A (p.R127Q)/c.380 G>A (p.R127Q), in two alleles.
|
25443352 |
2014 |