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    Evidence of founder chromosomes in fragile X syndrome

    The mutation responsible for fragile X syndrome and myotonic dystrophy involves the amplification of a simple trinucleotide repeat sequence, which increases in successive generations of affected pedigrees acco...

    R.I. Richards, K. Holman, K. Friend, E. Kremer, D. Hillen, A. Staples… in Nature Genetics (1992)