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Details on Person Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter
| Class:Id | LiteratureReference:70619 |
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| _displayName | Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter |
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| _timestamp | 2003-10-30 07:39:58 |
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| author | [Person:70620] Camacho, JA
[Person:70621] Obie, Cassandra
[Person:77163] Biery, B
[Person:70623] Goodman, BK
[Person:70624] Hu, Chien-an A
[Person:70625] Almashanu, Shlomo
[Person:70626] Steel, Gary
[Person:70627] Casey, R
[Person:70628] Lambert, M
[Person:70629] Mitchell, Grant A
[Person:70630] Valle, David |
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| journal | Nat Genet |
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| pages | 151-8 |
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| pubMedIdentifier | 10369256 |
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| title | Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. |
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| volume | 22 |
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| year | 1999 |
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| (literatureReference) | [Reaction:70634] ornithine (cytosolic) + citrulline (mitochondrial) => ornithine (mitochondrial) + citrulline (cytosolic) [Homo sapiens]
[Pathway:9956508] SLC25A15 variants cause hyperornithinemia-hyperammonemia-homocitrullinemia syndrome [Homo sapiens]
[FailedReaction:9956519] SLC25A15 variants don't translocate ornithine and citrulline [Homo sapiens]
[EntityWithAccessionedSequence:70618] SLC25A15 [mitochondrial inner membrane] [Homo sapiens]
[EntityWithAccessionedSequence:9959760] SLC25A15 F188del [mitochondrial inner membrane] [Homo sapiens]
[EntityWithAccessionedSequence:9959768] SLC25A15 T32R [mitochondrial inner membrane] [Homo sapiens]
[EntityWithAccessionedSequence:9959772] SLC25A15 E180K [mitochondrial inner membrane] [Homo sapiens] |
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