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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
Statement of
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
Foetal akinesia
Rights: Copyright © 2012 Elsevier B.V. Published by Elsevier B.V. All rights reserved.
DOI: 10.1016/j.nmd.2012.11.005
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Appears in Collections:Aurora harvest 7
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