Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations
| Autor: | 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, Rachael M., Davis, Mark R., Allcock, Richard J., Laing, Nigel G. |
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| Zdroj: | In Neuromuscular Disorders February 2013 23(2):165-169 |
| Databáze: | ScienceDirect |
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