P.O.1 Molecular genetic analysis of 6 glycosyltransferases in a large population of dystroglycanopathy patients significantly widens the spectrum of phenotypes resulting from POMT1, POMGnT1 and Fukutin mutations

✍ Scribed by C. Godfrey; R. Mein; M. Brockington; E. Elson; H. Topaloglu; J. Smith; D. Escolar; E. Bertini; I. Merlini; E. Mercuri; K. Bushby; V. Straub; K. North; S. Abbs; F. Muntoni

• Book ID: 116792589
• Publisher: Elsevier Science
• Year: 2006
• Tongue: English
• Weight: 48 KB
• Volume: 16
• Category: Article
• ISSN: 0960-8966
• DOI: 10.1016/j.nmd.2006.05.133