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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

Somatic VariantGenetic DisorderMedicineGeneticsInherited Metabolic DiseaseGenetic EpidemiologyClinical HeterogeneityPathologyMolecular GeneticsSplice Site MutationsDisease Gene IdentificationGlycerol Kinase DeficiencyMolecular Diagnostics