Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.
Open Access
- 1 August 1996
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 33 (8) , 716-717
- https://doi.org/10.1136/jmg.33.8.716
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.Keywords
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