High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

A novel X-linked mental retardation (XLMR) syndrome was recently identified, resulting from creatine deficiency in the brain caused by mutations in the creatine transporter gene, SLC6A8. We have studied the prevalence of SLC6A8 mutations in a panel of 290 patients with nonsyndromic XLMR archived by...

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Hauptverfasser: Rosenberg, Efraim H., Almeida, Ligia S., Kleefstra, Tjitske, deGrauw, Rose S., Yntema, Helger G., Bahi, Nadia, Moraine, Claude, Ropers, Hans-Hilger, Fryns, Jean-Pierre, deGrauw, Ton J., Jakobs, Cornelis, Salomons, Gajja S.
Format: Artigo
Sprache:Inglês
Veröffentlicht: The American Society of Human Genetics 2004
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182013/
https://ncbi.nlm.nih.gov/pubmed/15154114
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