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Research Article
Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.
  1. F Chen,
  2. L Slife,
  3. T Kishida,
  4. J Mulvihill,
  5. S E Tisherman,
  6. B Zbar
  1. Science Applications International Corp, Frederick, MD 21702, USA.

    Abstract

    A family with von Hippel-Lindau disease (VHL) type 2A has been shown to have a T to C missense mutation at nucleotide 547 of the VHL gene. This gives further support for the proposal to associate the 547 T to C mutation with phenotype VHL 2A.

    https://doi.org/10.1136/jmg.33.8.716

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