Genetic instability and hematologic disease risk in Werner syndrome patients and heterozygotes.

@article{Moser2000GeneticIA,
  title={Genetic instability and hematologic disease risk in Werner syndrome patients and heterozygotes.},
  author={M. J. Moser and William L. Bigbee and Stephen G. Grant and Mary J. Emond and Ronald G. Langlois and Ronald H. Jensen and Junko Oshima and Raymond J. Monnat},
  journal={Cancer research},
  year={2000},
  volume={60 9},
  pages={2492-6}
}
Werner syndrome (WRN) is an uncommon autosomal recessive disease in which progeroid features are associated with genetic instability and an elevated risk of neoplasia. We have used the glycophorin A (GPA) somatic cell mutation assay to analyze genetic instability in vivo in WRN patients and heterozygotes. GPA variant frequencies were determined for 11 WRN patients and for 10 heterozygous family members who collectively carry 10 different WRN mutations. Genetic instability as measured by GPA O/N… CONTINUE READING

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