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Details on Person Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes
| Class:Id | LiteratureReference:6797535 |
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| _displayName | Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes |
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| _timestamp | 2015-09-14 12:55:36 |
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| author | [Person:2466342] Tort, Frederic
[Person:6797534] Ferrer-Cortès, Xènia
[Person:6797541] Thió, Marta
[Person:2466340] Navarro-Sastre, Aleix
[Person:6797542] Matalonga, Leslie
[Person:6797536] Quintana, Ester
[Person:6797539] Bujan, Núria
[Person:6797537] Arias, Angela
[Person:2466346] Garcia-Villoria, Judit
[Person:3323126] Acquaviva, Cécile
[Person:6797538] Vianey-Saban, Christine
[Person:5603227] Artuch, Rafael
[Person:2466345] Garcia-Cazorla, Angels
[Person:2466349] Briones, Paz
[Person:200180] Ribes, A |
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| created | [InstanceEdit:6797540] Jassal, Bijay, 2015-09-14 |
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| journal | Hum. Mol. Genet. |
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| pages | 1907-15 |
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| pubMedIdentifier | 24256811 |
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| title | Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes |
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| volume | 23 |
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| year | 2014 |
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| (literatureReference) | [Reaction:6792572] LIPT1 transfers lipoyl group from lipoyl-GCSH to DBT/DLST [Homo sapiens]
[Reaction:9858752] LIPT1 transfers lipoyl group from lipoyl-GCSH to DLAT [Homo sapiens] |
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