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.
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APA
Chen, F., Slife, L., Kishida, T., Mulvihill, J., Tisherman, S. E., & Zbar, B. (1996). Genotype-phenotype correlation in von Hippel-Lindau disease: Identification of a mutation associated with VHL type 2A. Journal of Medical Genetics, 33(8), 716–717. https://doi.org/10.1136/jmg.33.8.716
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