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Details on Person Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan
| Class:Id | LiteratureReference:6785669 |
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| _displayName | Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan |
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| _timestamp | 2015-06-30 10:00:26 |
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| author | [Person:6785670] Longman, Cheryl
[Person:5615546] Brockington, Martin
[Person:5615643] Torelli, Silvia
[Person:5615633] Jimenez-Mallebrera, Cecilia
[Person:6785663] Kennedy, Colin
[Person:6785667] Khalil, Nofal
[Person:5615551] Feng, Lucy
[Person:6785666] Saran, Ravindra K
[Person:200235] Voit, T
[Person:5615626] Merlini, Luciano
[Person:5615635] Sewry, Caroline A
[Person:5615561] Brown, Susan C
[Person:5615577] Muntoni, Francesco |
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| created | [InstanceEdit:6785660] Jassal, Bijay, 2015-06-30 |
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| journal | Hum. Mol. Genet. |
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| pages | 2853-61 |
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| pubMedIdentifier | 12966029 |
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| title | Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan |
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| volume | 12 |
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| year | 2003 |
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| (literatureReference) | [Pathway:5083627] Defective LARGE causes MDDGA6 and MDDGB6 [Homo sapiens]
[FailedReaction:6785668] Defective LARGE does not transfer Xyl from UDP-Xyl to GlcA [Homo sapiens]
[Reaction:9638090] LARGE1,2 elongates matriglycan chain with Xyl [Homo sapiens]
[Reaction:9638097] LARGE1,2 elongates matriglycan chain with GlcA [Homo sapiens] |
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No pathways have been reviewed or authored by Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan (6785669)
