Whole exome sequencing in foetal akinesia expands the...

Neuromuscular Disorders 2013 / 02 Vol. 23; Iss. 2

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

Ravenscroft, Gianina, Thompson, Elizabeth M., Todd, Emily J., Yau, Kyle S., Kresoje, Nina, Sivadorai, Padma, Friend, Kathryn, Riley, Kate, Manton, Nicholas D., Blumbergs, Peter, Fietz, Michael, Duff,
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Volume:
23
Language:
english
Journal:
Neuromuscular Disorders
DOI:
10.1016/j.nmd.2012.11.005
Date:
February, 2013
File:
PDF, 883 KB
english, 2013
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