|
|||||
|
|
| Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan | |
| 作者姓名： | Roscioli T Kamsteeg EJ Buysse K Maystadt I van Reeuwijk J van den Elzen C van Beusekom E Riemersma M Pfundt R Vissers LE Schraders M Altunoglu U Buckley MF Brunner HG Grisart B Zhou H Veltman JA Gilissen C Mancini GM Delrée P Willemsen MA Ramadža DP Chitayat D Bennett C Sheridan E Peeters EA Tan-Sindhunata GM de Die-Smulders CE Devriendt K Kayserili H El-Hashash OA Stemple DL Lefeber DJ Lin YY van Bokhoven H |
| 摘 要： | |
| 本文献已被 PubMed 等数据库收录！ | |