Adelaide Research & Scholarship
Please use this identifier to cite or link to this item:
http://hdl.handle.net/2440/95510| Citations | ||
| Scopus | Web of Science® | Altmetric |
|---|---|---|
|
?
|
?
|
|
| 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 |
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.
