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1. POMT2 mutations cause [alpha]-dystroglycan hypoglycosylation and Walker-Warburg syndrome

Author

van Reeuwijk, J., Janssen, M., van den Elzen, C., Beltran-Valero de Bernabe, 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., and van Bokhoven, H.

Subjects
Encephalopathy -- Genetic aspects, Gene mutations -- Research, Glycosylation -- Research, Health
Published
2005

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