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Details on Person Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy
| Class:Id | LiteratureReference:5693126 |
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| _displayName | Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy |
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| _timestamp | 2015-05-14 10:19:45 |
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| author | [Person:5693155] Novarino, Gaia
[Person:5693134] El-Fishawy, Paul
[Person:2485027] Kayserili, Hülya
[Person:5693127] Meguid, Nagwa A
[Person:5693122] Scott, Eric M
[Person:5693152] Schroth, Jana
[Person:4420035] Silhavy, Jennifer L
[Person:5693136] Kara, Majdi
[Person:5693161] Khalil, Rehab O
[Person:5693130] Ben-Omran, Tawfeg
[Person:5693151] Ercan-Sencicek, A Gulhan
[Person:5693132] Hashish, Adel F
[Person:5693169] Sanders, Stephan J
[Person:5693143] Gupta, Abha R
[Person:5693168] Hashem, Hebatalla S
[Person:77511] Matern, D
[Person:1228021] Gabriel, S
[Person:5693141] Sweetman, Larry
[Person:5693142] Rahimi, Yasmeen
[Person:204158] Harris, RA
[Person:5693165] State, Matthew W
[Person:3621805] Gleeson, Joseph G |
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| created | [InstanceEdit:5693146] Jassal, Bijay, 2015-05-14 |
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| journal | Science |
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| pages | 394-7 |
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| pubMedIdentifier | 22956686 |
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| title | Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy |
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| volume | 338 |
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| year | 2012 |
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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:9912465] R156* BCKDK [mitochondrial matrix] [Homo sapiens]
[EntityWithAccessionedSequence:9912466] R224P BCKDK [mitochondrial matrix] [Homo sapiens] |
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