Article
X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.
American journal of human genetics - 1 May 2002
Hahn Kimberly A, Salomons Gajja S, Tackels-Horne Darci, Wood Tim C, Taylor Harold A, Schroer Richard J, Lubs Herbert A, Jakobs Cornelis, Olson Rick L, Holden Kenton R, Stevenson Roger E, Schwartz Charles E
Abstract excerpt
A family with X-linked mental retardation characterized by severe mental retardation, speech and behavioral abnormalities, and seizures in affected male patients has been found to have a G1141C transversion in the creatine-transporter gene SLC6A8. This mutation results in a glycine being replaced by an arginine (G381R) and alternative splicing, since the G-->C transversion occurs at the -1 position of the 5'...
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