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Article

Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap.

American journal of human genetics - 1 Jul 1994

Knight S J, Voelckel M A, Hirst M C, Flannery A V, Moncla A, Davies K E

Abstract excerpt

We have recently shown that the expression of the FRAXE fragile site in Xq28 is associated with the expansion of a GCC trinucleotide repeat. In the families studied, FRAXE expression is also associated with mild mental handicap. Here we present data on families that previously had been diagnosed as having the fragile X syndrome but that later were found to be negative for trinucleotide repeat expansion at the...

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Identifiers

PMID: 8023854
PMCID: PMC1918210

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Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap.PMID 8023854Read ↗

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FRAXE and mental retardation.Semantic proximity Read ↗

FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother.Semantic proximity Read ↗

A new PCR assay useful for screening of FRAXE/FMR2 mental impairment among males.Semantic proximity Read ↗

Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR.Semantic proximity Read ↗

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Stability and haplotype analysis of the FRAXE region.Semantic proximity Read ↗

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