High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia

@article{Almqvist2001HighIR,
  title={High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia},
  author={EW Almqvist and D Elterman and PM Macleod and M Hayden},
  journal={Clinical Genetics},
  year={2001},
  volume={60}
}
The advent of the direct mutation test for Huntington disease (HD) has made it possible to identify a previously unrecognized symptomatic population of HD, including those with an atypical presentation or patients without a family history of HD. The present study investigated the uptake of this test in the province of British Columbia (BC), Canada and assessed the incidence rate and rate of identification of new mutations for HD. All symptomatic individuals residing in BC who were referred for… 
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