Mutations inGMPPACause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction


Katrin Koehler,Meera Malik,Saqib Mahmood,Sebastian Gießelmann,Christian Beetz,J. Christopher Hennings,Antje K. Huebner,Ammi Grahn,Janine Reunert,Gudrun Nürnberg,Holger Thiele,Janine Altmüller,Peter Nürnberg,Rizwan Mumtaz,Dusica Babovic-Vuksanovic, et al.


The American Journal of Human Genetics




3 October 2013

Copyright © 2013, Elsevier

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