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Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application

1 Jan 2007

Abstract excerpt

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 expanded the assay to characterize novel SLC6A8 missense variants. A total of 13 variants were introduced in the SLC6A8...

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PMID: 17465020
DOI: 10.1002/humu.20532

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