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- W2056337536 abstract "Twenty-two members of 18 families with autism have been examined for the presence of mutations and abnormal methylation in the FMR-1 region at Xq27.3. All patients fulfilled diagnostic criteria of infantile autism. A characteristic pattern of insertion and methylation were detected after Southern blot analysis in 7 autistic individuals expressing the fragile site at Xq27.3. Normal DNA patterns were observed in 15 autistic boys cytogenetically negative for the fragile site. The results indicate a lack of involvement of the FMR-1 region in infantile autists negative for fragile X expression. © 1992 Wiley-Liss, Inc." @default.
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- W2056337536 date "1992-12-01" @default.
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- W2056337536 title "Infantile autism—fragile X: Molecular findings support genetic heterogeneity" @default.
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- W2056337536 doi "https://doi.org/10.1002/ajmg.1320440624" @default.
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