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Details on Person Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients
| Class:Id | LiteratureReference:5693166 |
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| _displayName | Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients |
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| _timestamp | 2015-05-14 10:20:17 |
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| author | [Person:2466345] Garcia-Cazorla, Angels
[Person:5693139] Oyarzabal, Alfonso
[Person:5693157] Fort, Joana
[Person:5693135] Robles, Concepción
[Person:5693128] Castejón, Esperanza
[Person:5693163] Ruiz-Sala, Pedro
[Person:352106] Bodoy, S
[Person:2466336] Merinero, Begoña
[Person:5693154] Lopez-Sala, Anna
[Person:5693159] Dopazo, Joaquín
[Person:5693131] Nunes, Virginia
[Person:200214] Ugarte, M
[Person:5603227] Artuch, Rafael
[Person:352094] Palacin, Manuel
[Person:5693121] Rodríguez-Pombo, Pilar
[Person:5693137] Alcaide, Patricia
[Person:5693119] Navarrete, Rosa
[Person:5693160] Sanz, Paloma
[Person:5693150] Font-Llitjós, Mariona
[Person:5693167] Vilaseca, Ma Antonia
[Person:5693144] Ormaizabal, Aida
[Person:5693156] Pristoupilova, Anna
[Person:5693162] Agulló, Sergi Beltran |
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| created | [InstanceEdit:5693146] Jassal, Bijay, 2015-05-14 |
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| journal | Hum. Mutat. |
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| pages | 470-7 |
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| pubMedIdentifier | 24449431 |
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| title | Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients |
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| volume | 35 |
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| year | 2014 |
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| (literatureReference) | [Reaction:5693148] BCKDK phosphorylates BCKDH [Homo sapiens]
[FailedReaction:9912480] BCKDK loss-of-function mutations do not phosphorylate BCKDH [Homo sapiens]
[Pathway:9912481] Branched-chain ketoacid dehydrogenase kinase deficiency [Homo sapiens]
[EntityWithAccessionedSequence:9912461] L389P BCKDK [mitochondrial matrix] [Homo sapiens]
[EntityWithAccessionedSequence:9912469] R174Gfs1* BCKDK [mitochondrial matrix] [Homo sapiens] |
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