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https://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. |
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: | Aurora harvest 7 Medicine publications |
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