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J Med Genet. 1996 Aug;33(8):716-7.

Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.

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  • 1Science 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.

PMID:
8863170
PMCID:
PMC1050712
[PubMed - indexed for MEDLINE]
Free PMC Article
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