Back mutation can produce phenotype reversion in Bloom syndrome somatic cells

@article{Ellis2001BackMC,
  title={Back mutation can produce phenotype reversion in Bloom syndrome somatic cells},
  author={Nathan A Ellis and Susan Ciocci and James German},
  journal={Human Genetics},
  year={2001},
  volume={108},
  pages={167-173}
}
Abstract. A unique and constant feature of Bloom syndrome (BS) cells is an excessive rate of sister-chromatid exchange (SCE). However, in approximately 20% of persons with typical BS, mosaicism is observed in which a proportion of lymphocytes (usually a small one) exhibits a low-SCE rate. Persons with such mosaicism predominantly are genetic compounds for mutation at BLM, and the low-SCE lymphocytes are the progeny of a precursor cell in which intragenic recombination between the two sites of… Expand
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