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Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene

✍ Scribed by Cristina Martínez-Muñoz; Efraim H. Rosenberg; Cornelis Jakobs; Gajja S. Salomons


Book ID
116508048
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
699 KB
Volume
418
Category
Article
ISSN
0378-1119

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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