|
Adult-onset citrullinemia type 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Adult-onset citrullinemia type 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Adult-onset citrullinemia type 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.
|
10369257 |
1999 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These results indicate that CTLN2 is caused by an abnormality in the SLC25A13 gene, and that our criteria for CTLN2 before DNA diagnosis are correct.
|
11153906 |
2000 |
|
Adult-onset citrullinemia type 2
|
0.700 |
Biomarker
|
disease |
BEFREE |
Adult-onset type II citrullinemia (CTLN2) is characterized by a liver-specific argininosuccinate synthetase deficiency caused by a deficiency of the citrin protein encoded by the SLC25A13 gene.
|
11281457 |
2001 |
|
Adult-onset citrullinemia type 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Neonatal presentation of adult-onset type II citrullinemia.
|
11281457 |
2001 |
|
Adult-onset citrullinemia type 2
|
0.700 |
Biomarker
|
disease |
BEFREE |
Adult-onset type 2 citrullinaemia (CTLN2) is caused by a deficiency of the citrin protein encoded by the SLC25A13 gene.
|
12424587 |
2002 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Adult-onset type II citrullinemia (CTLN2), characterized by a liver-specific deficiency of urea cycle enzyme, argininosuccinate synthetase, is caused by mutations in SLC25A13 that encodes a calcium binding mitochondrial solute carrier protein, citrin.
|
12602510 |
2002 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These methods have shown that more than 90% of the patients diagnosed as suffering from CTLN2 by enzymatic analysis carry SLC25A13 mutations in both alleles, indicating that CTLN2 is caused by citrin deficiency.
|
12111366 |
2002 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of the SLC25A13 gene, which is responsible for CTLN2, provides a rapid and accurate diagnosis.
|
12512993 |
2002 |
|
Adult-onset citrullinemia type 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Adult-onset type 2 citrullinaemia (CTLN2) is caused by a deficiency of the citrin protein encoded by the SLC25A13 gene.
|
12424587 |
2002 |
|
Adult-onset citrullinemia type 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Adult-onset type 2 citrullinaemia (CTLN2) is caused by a deficiency of the citrin protein encoded by the SLC25A13 gene.
|
12424587 |
2002 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations.
|
11793471 |
2002 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
DNA analysis for citrin deficiency revealed that SLC25A13 mutations are the cause of a particular type of neonatal intrahepatic cholestasis.
|
12692712 |
2003 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Citrullinemia is caused by either deficiency of argininosuccinate synthetase (ASS, citrullinemia type 1) or a defect of the SLC25A13 gene encoding a mitochondrial aspartate-glutamate transporter (citrullinemia type II).
|
14680976 |
2003 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
From preliminary population analysis of the known nine SLC25A13 mutations, we found that the carrier frequency is high in China (1/79), Taiwan (1/98), and Korea (1/50) as well as Japan (1/69), suggesting that many patients with citrin deficiency exist in East Asia.
|
14680984 |
2003 |
|
Adult-onset citrullinemia type 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations.
|
14680984 |
2003 |
|
Adult-onset citrullinemia type 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle.
|
15050970 |
2004 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A deficiency of citrin, which is encoded by the SLC25A13 gene, causes both adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD).
|
15542392 |
2004 |
|
Adult-onset citrullinemia type 2
|
0.700 |
Biomarker
|
disease |
BEFREE |
Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.
|
14701727 |
2004 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
NMS for citrin deficiency (frequency of homozygote with SLC25A13 mutation: 1/10,000-1/38,000 in East Asia) will be useful for clarification of the clinical course, treatment, and prevention of this disease.
|
15295082 |
2004 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We found that adult-onset type II citrullinemia is caused by mutations in the SLC25A13 gene that encodes for citrin.
|
15050970 |
2004 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.
|
16059747 |
2005 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Deficiency of citrin due to mutations of the SLC25A13 gene causes not only adult-onset type II citrullinemia, but also neonatal intrahepatic cholestasis.
|
16311094 |
2005 |