X-Linked Mental Retardation with Seizures and Carrier Manifestations Is Caused by a Mutation in the Creatine-Transporter Gene (SLC6A8) Located in Xq28

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...

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Główni autorzy: 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.
Format: Artigo
Język:Inglês
Wydane: The American Society of Human Genetics 2002
Hasła przedmiotowe:
Report
Dostęp online:https://ncbi.nlm.nih.gov/pmc/articles/PMC447610/
https://ncbi.nlm.nih.gov/pubmed/11898126
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