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Details on Person loss_of_function of IDUA mutants [lysosomal lumen]
| Class:Id | EntityFunctionalStatus:2250305 |
|---|---|
| _displayName | loss_of_function of IDUA mutants [lysosomal lumen] |
| _timestamp | 2013-06-17 18:09:15 |
| created | [InstanceEdit:2250306] Jassal, B, 2012-05-15 |
| diseaseEntity | [DefinedSet:2207701] IDUA mutants [lysosomal lumen] [Homo sapiens] |
| functionalStatus | [FunctionalStatus:2250307] loss_of_function via point_mutation |
| modified | [InstanceEdit:3731117] Wu, G, 2013-06-17 [InstanceEdit:3731118] Wu, G, 2013-06-17 [InstanceEdit:9631717] Wu, G, 2018-12-12 |
| normalEntity | [EntityWithAccessionedSequence:1678661] IDUA [lysosomal lumen] [Homo sapiens] |
| (entityFunctionalStatus) | [FailedReaction:2206299] Defective IDUA does not hydrolyse Heparan sulfate chain(6) [Homo sapiens] [FailedReaction:9036037] Defective IDUA does not hydrolyse Heparan sulfate chain(1) [Homo sapiens] [FailedReaction:9036041] Defective IDUA does not hydrolyse the unsulfated alpha-L-iduronosidic link in DS [Homo sapiens] |
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No pathways have been reviewed or authored by loss_of_function of IDUA mutants [lysosomal lumen] (2250305)
