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  • Exclusion of calcitonin as a candidate gene for the basic defect in a family with autosomal dominant supravalvular aortic stenosis.

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Research Article
Exclusion of calcitonin as a candidate gene for the basic defect in a family with autosomal dominant supravalvular aortic stenosis.
  1. C P Bennett,
  2. J Burn,
  3. G E Moore,
  4. J Chambers,
  5. R Williamson,
  6. J Wilkinson
  1. Department of Human Genetics, University of Newcastle upon Tyne.

    Abstract

    Supravalvular aortic stenosis (SVAS) may occur as an isolated autosomal dominant trait or as a feature of Williams syndrome. It has been suggested that a defect in calcitonin function may play a role in Williams syndrome. We have excluded calcitonin as a candidate gene for SVAS using a gene specific probe.

    https://doi.org/10.1136/jmg.25.5.311

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