rs121908535
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.
|
19242930 |
2009 |
rs121908535
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.
|
16601889 |
2006 |
rs121908535
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation, P126R, in a Japanese patient with HHH syndrome.
|
11814739 |
2002 |
rs121908535
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
|
11552031 |
2001 |
rs121908535
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
|
11668643 |
2001 |
rs121908535
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
|
10805333 |
2000 |
rs121908535
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.
|
10369256 |
1999 |
rs121908535
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121908535
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|