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    Article

    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)

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    Article

    Multilocus analysis of the fragile X syndrome

    A multilocus analysis of the fragile X (fra(X)) syndrome was conducted with 147 families. Two proximal loci, DXS51 and F9, and two distal loci, DXS52 and DXS15, were studied. Overall, the best multipoint dista...

    W. T. Brown, A. Gross, C. Chan, E. C. Jenkins, J. L. Mandel, I. Oberlé in Human Genetics (1988)