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Details on Person Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome
| Class:Id | LiteratureReference:9940682 |
|---|---|
| _displayName | Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome |
| _timestamp | 2025-03-06 09:50:24 |
| author | [Person:5617089] Beltran-Valero de Bernabé, D [Person:5617070] Voit, T [Person:9940694] Longman, C [Person:9940824] Steinbrecher, A [Person:2328178] Straub, V [Person:9940772] Yuva, Y [Person:5617104] Herrmann, R [Person:9940800] Sperner, J [Person:9940710] Korenke, C [Person:9940736] Diesen, C [Person:9940835] Dobyns, W B [Person:2470663] Brunner, H G [Person:5617112] van Bokhoven, H [Person:5617086] Brockington, M [Person:5617076] Muntoni, F |
| created | [InstanceEdit:9940703] Stephan, Ralf, 2025-03-06 |
| journal | J Med Genet |
| pages | e61 |
| pubMedIdentifier | 15121789 |
| title | Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome |
| volume | 41 |
| year | 2004 |
| (literatureReference) | [Reaction:9940756] FKRP dimer transfers RboP to matriglycan chain [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome (9940682)
