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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

Lookup NU author(s): Emerita Professor Katherine Bushby, Professor Volker StraubORCiD


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Publication metadata

Author(s): Godfrey C, Mein R, Brockington M, Elson E, Topaloglu H, Smith J, Escolar D, Bertini E, Merlini I, Mercuri E, Bushby K, Straub V, North K, Abbs S, Muntoni F

Publication type: Conference Proceedings (inc. Abstract)

Publication status: Published

Conference Name: 11th International Congress of the World Muscle Society

Year of Conference: 2006

Pages: 683-683

ISSN: 0960-8966

Publisher: Neuromuscular Disorders: Pergamon


DOI: 10.1016/j.nmd.2006.05.133

Library holdings: Search Newcastle University Library for this item