Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
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| Description | scientific article |
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author: Margit Schraders Jeroen van Reeuwijk Joris A Veltman Han G. Brunner Tony Roscioli Ellen van Beusekom Danijela Petković Ramadža Dirk J Lefeber Grazia M S Mancini Michèl A A P Willemsen Rolph Pfundt Erik-Jan Kamsteeg Lisenka Vissers Hans van Bokhoven Eamonn Sheridan Yung-Yao Lin Christian Gilissen Hulya Kayserili |
| Publication date | May 2012 |
| Language | English |
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