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Details on Person Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates
| Class:Id | LiteratureReference:4549335 |
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| _displayName | Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates |
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| _timestamp | 2016-12-21 14:20:56 |
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| author | [Person:5633214] Belaya, Katsiaryna
[Person:4549310] Finlayson, Sarah
[Person:4549336] Slater, Clarke R
[Person:4549369] Cossins, Judith
[Person:4549373] Liu, Wei Wei
[Person:4085015] Maxwell, Susan
[Person:2032853] McGowan, SJ
[Person:4549338] Maslau, Siarhei
[Person:2033203] Twigg, SR
[Person:4549353] Walls, Timothy J
[Person:4549317] Pascual Pascual, Samuel I
[Person:4084987] Palace, Jacqueline
[Person:4085012] Beeson, David |
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| created | [InstanceEdit:4549381] Jassal, B, 2013-09-12 |
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| journal | Am. J. Hum. Genet. |
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| modified | [InstanceEdit:8952971] D'Eustachio, Peter, 2016-12-21 |
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| pages | 193-201 |
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| pubMedIdentifier | 22742743 |
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| title | Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates |
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| volume | 91 |
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| year | 2012 |
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| (literatureReference) | [Reaction:446191] Addition of N-acetyl-D-glucosamine to Dolichyl phosphate [Homo sapiens]
[FailedReaction:4549334] Defective DPAGT1 does not transfer GlcNAc to DOLP [Homo sapiens]
[Pathway:4549356] Defective DPAGT1 causes CDG-1j, CMSTA2 [Homo sapiens] |
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