Article
Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.
Cell - 17 Jun 1994
Kunst C B, Warren S T
Abstract excerpt
Fragile X syndrome results from the expansion of a CGG repeat that is normally interrupted by occasional AGG triplets. Linkage disequilibrium suggests that certain normal haplotypes may contribute unequally to the pool of fragile X chromosomes. Sequence analysis of normal alleles demonstrates haplotype-specific variation of the cryptic nature of the repeat. Variation occurs principally at the 3' end of the...
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