|
SLC25A15
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.
|
18978333 |
2008 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
|
11552031 |
2001 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Adult-onset presentation of a hyperornithinemia-hyperammonemia-homocitrullinuria patient without prior history of neurological complications.
|
23430880 |
2012 |
|
SLC25A15
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Our results show that ORNT1 encodes the mitochondrial ornithine transporter involved in UC function and is defective in HHH syndrome.
|
10369256 |
1999 |
|
SLC25A15
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Adult-onset presentation of a hyperornithinemia-hyperammonemia-homocitrullinuria patient without prior history of neurological complications.
|
23430880 |
2012 |
|
SLC25A15
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.
|
12807890 |
2003 |
|
SLC25A15
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition.
|
23247599 |
2013 |
|
SLC25A15
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
This study confirms that defects in the ORNT1 gene cause the HHH syndrome and that the genetic basis in Japanese patients is heterogeneous.
|
10805333 |
2000 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Because the patient did not have any of the three mutations previously described in other Japanese patients with HHH syndrome, and the only material available from the patient was peripheral leukocytes, we established a genomic polymerase chain reaction method using intronic primers to amplify every exon of the ORNT1 gene, and we directly sequenced the polymerase chain reaction products.
|
11814739 |
2002 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Eight unrelated Italian patients with the hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome were analyzed for mutations in the ORNT1 gene.
|
11668643 |
2001 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.
|
16601889 |
2006 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In this study, we collected 16 additional HHH cases and expanded the spectrum of SLC25A15/ORC1 mutations.
|
19242930 |
2009 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Our results show that ORNT1 encodes the mitochondrial ornithine transporter involved in UC function and is defective in HHH syndrome.
|
10369256 |
1999 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
|
11552031 |
2001 |
|
SLC25A15
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
|
11552031 |
2001 |
|
SLC25A15
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
SLC25A15
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |