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
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. MuntoniVolume:
16
Year:
2006
Language:
english
DOI:
10.1016/j.nmd.2006.05.133
File:
PDF, 48 KB
english, 2006