Mental Retardation
Data on mental retardation detailed by researchers at Vrije University Amsterdam
Published in Drug Week, December 21st, 2007
"We have developed a diagnostic assay to test creatine uptake in fibroblasts. Additionally, we expanded the assay to characterize novel SLC6A8 missense variants. A total of 13 variants were introduced in the SLC6A8 cDNA by site-directed mutagenesis. All variants were transiently transfected in SLC6A8-deficient fibroblasts and tested for restoration of creatine uptake in deficient primary fibroblasts. Thus, we proved that nine variants...
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Source: Drug Week (2007-12-21)
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