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Details on Person Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome
| Class:Id | LiteratureReference:9916626 |
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| _displayName | Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome |
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| _timestamp | 2024-07-25 19:35:38 |
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| author | [Person:9916628] Tetreault, Martine
[Person:9681562] Fahiminiya, Somayyeh
[Person:2995360] Antonicka, Hana
[Person:70629] Mitchell, Grant A
[Person:70682] Geraghty, Michael T
[Person:9916551] Lines, Matthew
[Person:3322889] Boycott, Kym M
[Person:450994] Shoubridge, EA
[Person:2160480] Mitchell, John J
[Person:9916553] Care4Rare Canada Consortium, -
[Person:3247906] Michaud, Jacques L
[Person:2458336] Majewski, Jacek |
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| created | [InstanceEdit:9916623] Rothfels, Karen, 2024-07-25 |
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| journal | Hum Genet |
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| pages | 981-91 |
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| pubMedIdentifier | 26099313 |
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| title | Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome |
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| volume | 134 |
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| year | 2015 |
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| (literatureReference) | [EntityWithAccessionedSequence:9916681] G195S ECHS1 [mitochondrial matrix] [Homo sapiens]
[EntityWithAccessionedSequence:9916686] A238V ECHS1 [mitochondrial matrix] [Homo sapiens]
[EntityWithAccessionedSequence:9916687] T180A ECHS1 [mitochondrial matrix] [Homo sapiens]
[FailedReaction:9916717] ECHS1 mutants don't synthesize beta-hydroxyisobutyryl-CoA [Homo sapiens]
[Pathway:9916720] Mitochondrial short-chain enoyl-CoA hydratase deficiency 1 [Homo sapiens] |
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