Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/95510
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Type: Journal article
Title: Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations
Author: Ravenscroft, G.
Thompson, E.
Todd, E.
Yau, K.
Kresoje, N.
Sivadorai, P.
Friend, K.
Riley, K.
Manton, N.
Blumbergs, P.
Fietz, M.
Duff, R.
Davis, M.
Allcock, R.
Laing, N.
Citation: Neuromuscular Disorders, 2013; 23(2):165-169
Publisher: Elsevier
Issue Date: 2013
ISSN: 0960-8966
1873-2364
Statement of
Responsibility: 
Gianina Ravenscroft, Elizabeth M. Thompson, Emily J. Todd, Kyle S. Yau, Nina Kresoje, Padma Sivadorai, Kathryn Friend, Kate Riley, Nicholas D. Manton, Peter Blumbergs, Michael Fietz, Rachael M. Duff, Mark R. Davis, Richard J. Allcock, Nigel G. Laing
Abstract: Abstract not available
Keywords: Pterygia; Whole exome sequencing; Glycogen storage disease; GBE1; Foetal akinesia
Rights: Copyright © 2012 Elsevier B.V. Published by Elsevier B.V. All rights reserved.
RMID: 0030034340
DOI: 10.1016/j.nmd.2012.11.005
Grant ID: http://purl.org/au-research/grants/nhmrc/1035955
http://purl.org/au-research/grants/nhmrc/1002147
http://purl.org/au-research/grants/nhmrc/1022707
Appears in Collections:Medicine publications

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