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Details on Person Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles
| Class:Id | LiteratureReference:3700873 |
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| _displayName | Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles |
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| _timestamp | 2013-06-11 12:42:30 |
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| author | [Person:3700867] Zampieri, Stefania
[Person:3700902] Filocamo, Mirella
[Person:3700939] Buratti, Emanuele
[Person:3700934] Stroppiano, Marina
[Person:3700908] Vlahovicek, Kristian
[Person:3700941] Rosso, Natalia
[Person:3700896] Bignulin, Eleonora
[Person:3700931] Regis, Stefano
[Person:3700961] Carnevale, Franco
[Person:3700881] Bembi, Bruno
[Person:3700905] Dardis, Andrea |
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| created | [InstanceEdit:3700835] Jassal, B, 2013-06-11 |
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| journal | Neurogenetics |
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| pages | 49-58 |
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| pubMedIdentifier | 18758829 |
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| title | Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles |
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| volume | 10 |
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| year | 2009 |
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| (literatureReference) | [FailedReaction:3662344] Defective HEXB does not cleave the terminal GalNAc from DS [Homo sapiens]
[FailedReaction:9035982] Defective HEXB does not cleave the terminal GalNAc from HA fragments [Homo sapiens]
[FailedReaction:9035983] Defective HEXB does not cleave the terminal GalNAc from keratan sulfate [Homo sapiens] |
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