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Details on Person Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies
| Class:Id | LiteratureReference:2285509 |
|---|---|
| _displayName | Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies |
| _timestamp | 2012-05-28 12:16:00 |
| author | [Person:2285508] Santamaria, Raül [Person:2285497] Chabás, Amparo [Person:2285533] Coll, Maria Josep [Person:2285521] Miranda, Clara Sa [Person:2285518] Vilageliu, Lluďsa [Person:2285522] Grinberg, Daniel |
| created | [InstanceEdit:2285516] Jassal, B, 2012-05-28 |
| journal | Hum. Mutat. |
| pages | 1060 |
| pubMedIdentifier | 16941474 |
| title | Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies |
| volume | 27 |
| year | 2006 |
| (literatureReference) | [FailedReaction:2265534] Defective GLB1 does not hydrolyse a glycosaminoglycan [Homo sapiens] [FailedReaction:9036061] Defective GLB1 does not hydrolyse linker chain(2) [Homo sapiens] |
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No pathways have been reviewed or authored by Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies (2285509)
