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

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...

Topics

DNA
Dinucleoside Phosphates
Down Syndrome
Female
Fragile X Syndrome
Humans
Male
Pedigree
Phenotype
Repetitive Sequences, Nucleic Acid
Restriction Mapping

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