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Title
POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome
Authors
van Reeuwijk, J; Janssen, M; van den Elzen, C; Beltran-Valero de Bernabé, D; Sabatelli, P; Merlini, L; Boon, M; Scheffer, H; Brockington, M; Muntoni, F; Huynen, M A; Verrips, A; Walsh, C A; Barth, P G; Brunner, H G; van Bokhoven, H
Publication
Journal of Medical Genetics (JMG), 2005, Vol 42, Issue 12, p907