Functional characterization of missense
✍
Efraim H. Rosenberg; Cristina Martínez Muñoz; Ofir T. Betsalel; Silvy J.M. van D
📂
Article
📅
2007
🏛
John Wiley and Sons
🌐
English
⚖ 288 KB
Creatine transporter deficiency is an X-linked mental retardation disorder caused by mutations in the creatine transporter gene (SLC6A8). So far, 20 mutations in the SLC6A8 gene have been described. We have developed a diagnostic assay to test creatine uptake in fibroblasts. Additionally, we expande