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