Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.
case_report · Level V
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- Record sourced from PubMed, PMID 8863170.
- Also identified by PMC identifier 1050712.
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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.
Medical subject headings
- Genes, Tumor Suppressor
- Ligases
- Point Mutation
- Proteins
- Tumor Suppressor Proteins
- Ubiquitin-Protein Ligases
- von Hippel-Lindau Disease