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Mechanisms of disease

The discovery of simple repeats that cause complex disorders

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Original article

  • Verkerk, A. J. M. H. et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65, 905–914 (1991)

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  • La Spada, A. R. et al. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77–79 (1991)

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Correspondence to Jeannine Gerhardt.

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Gerhardt, J. The discovery of simple repeats that cause complex disorders. Nat Rev Mol Cell Biol (2023). https://doi.org/10.1038/s41580-023-00666-z

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  • DOI: https://doi.org/10.1038/s41580-023-00666-z

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