Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

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  2. Dr Juliane Mueller
  3. Dr Steven Laval
  4. Professor Katherine Bushby
  5. Professor Volker Straub
  6. Professor Hanns Lochmuller
Author(s)Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Jimenez Mallebrera C, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmüller H
Publication type Article
JournalAmerican Journal of Human Genetics
Year2011
Volume88
Issue2
Pages162-172
ISSN (print)0002-9297
ISSN (electronic)1537-6605
Full text is available for this publication:
PublisherCell Press
URLhttp://dx.doi.org/10.1016/j.ajhg.2011.01.008
DOI10.1016/j.ajhg.2011.01.008
PubMed id21310273
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