Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene

Medicine & Life Sciences

• X-Linked Creatine Deficiency 100%
• Creatine 62%
• Genes 21%
• Population 20%
• Tandem Mass Spectrometry 16%
• Liquid Chromatography 15%
• HeLa Cells 14%
• Intellectual Disability 14%
• Computer Simulation 14%
• Transfection 12%
• Exome 9%
• Proton Magnetic Resonance Spectroscopy 8%
• Site-Directed Mutagenesis 8%
• Organism Cloning 6%
• Virulence 6%
• Cognitive Dysfunction 6%
• Creatinine 5%
• Cross-Sectional Studies 4%
• Biomarkers 4%
• Costs and Cost Analysis 4%
• Databases 4%
• Mutation 4%
• Brain 3%