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- W170450818 abstract "Disease-causing mutations are generally stable within the span of a few generations during which we can follow them by DNA analyses. This is not true for three diseases, uncovered during a span of less than a year, which are caused by mutations in microsatellites, by trinucleotide repeat expansions. These mutations are unstable. They vary between different members in a kindred, between sibs, and even between tissues and cells of the same individual. This new type of unstable or dynamic mutation is responsible for the fragile X syndrome, myotonic dystrophy and X-linked spinal and bulbar muscular atrophy (SBMA) also called Kennedy disease. While at the root of these diseases, variable triplet repeat expansion also offers an explanation for some unusual genetic features of at least two of these diseases, the phenomenon of anticipation and that of variable expression and incomplete penetrance. Several recent reviews and editorials have discussed the unusual features and characteristics of this new type of mutation (Mandel and Heitz, 1992; Caskey et al., 1992; Rousseau et al., 1992a; Richards and Sutherland, 1992; Rousseau et al., 1992b; Harper et al., 1992; Sutherland and Richards, 1992)." @default.
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- W170450818 date "1993-01-01" @default.
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- W170450818 title "Microsatellites and disease: A new paradigm" @default.
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- W170450818 doi "https://doi.org/10.1007/978-3-0348-8583-6_13" @default.
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