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- W1978336876 abstract "The fragile X syndrome is a common cause of mental retardation and is associated with a fragile site at Xq27.3 (FRAXA). Recently, evidence has been presented for the role of methylation and genomic imprinting in the expression of the disease. We have identified a site of methylation in patients by long range restriction mapping of the region. In this paper we present a YAC contig of this area, localise the CpG sequences which are methylated, and show by in situ hybridisation that the site of fragility lies within this region." @default.
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- W1978336876 date "1991-01-01" @default.
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- W1978336876 title "A YAC contig across the fragile X site defines the region of fragility" @default.
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- W1978336876 doi "https://doi.org/10.1093/nar/19.12.3283" @default.
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