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Elsevier, Neuromuscular Disorders, 2(23), p. 165-169, 2013

DOI: 10.1016/j.nmd.2012.11.005

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Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations

Journal article published in 2013 by Gianina Ravenscroft ORCID, 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
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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Abstract

Abstract not available ; 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