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Pagnamenta AT, Wing K, Sadighi Akha E, Knight SJL, Blte S, Schmtzer G, Duketis E, Poustka F, Klauck SM, Poustka A, Ragoussis J, Bailey AJ, Monaco AP, (IMGSAC) and the IMGS of AC (2009) A 15q13.3 microdeletion segregating with autism

Two adjacent and highly conserved alanine residues are substituted in hGS to leucine and proline, and contribute to substrate specificity

243 Decreased MeCP2 expression in the PFC in ASD patients is associated with aberrant hypermethylation of its promoter

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