Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis
Christina Hellerud(Sahlgrenska University Hospital), Ewa Pronicka(Children's Memorial Health Institute), James Ellis(University of Toronto), Elżbieta Ciara(Children's Memorial Health Institute), Jolanta Kubalska(Institute of Psychiatry and Neurology), Dorota Jurkiewicz(Children's Memorial Health Institute), Maciej Adamowicz(Children's Memorial Health Institute), Ewa Popowska(Instytut Matki i Dziecka), Sven Lindstedt(Sahlgrenska University Hospital), Joanna Taybert(Children's Memorial Health Institute)
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