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Details on Person Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients
| Class:Id | LiteratureReference:2216740 |
|---|---|
| _displayName | Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients |
| _timestamp | 2012-05-01 08:48:48 |
| author | [Person:2216744] Montfort, M [Person:1605730] Vilageliu, L [Person:2216748] Garcia-Giralt, N [Person:2216750] Guidi, S [Person:2216751] Coll, MJ [Person:1605703] Chabás, A [Person:1605776] Grinberg, D |
| created | [InstanceEdit:2216739] Jassal, B, 2012-05-01 |
| journal | Hum Mutat |
| pages | 274-9 |
| pubMedIdentifier | 9744479 |
| title | Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients |
| volume | 12 |
| year | 1998 |
| (literatureReference) | [FailedReaction:2263444] Defective SGSH does not hydrolyse Heparan sulfate chain(7) [Homo sapiens] [FailedReaction:9036050] Defective SGSH does not hydrolyse Heparan sulfate chain(2) [Homo sapiens] |
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No pathways have been reviewed or authored by Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients (2216740)
