Efficacy of gene testing for von Hippel-Lindau disease.

doi:10.5694/j.1326-5377.1998.tb126833.x

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Article

Efficacy of gene testing for von Hippel-Lindau disease.

The Medical journal of Australia - 19 Oct 1998

Martin R L, Goldblatt J, Walpole I R

Abstract excerpt

OBJECTIVE: To determine the efficacy of genetic testing of individuals presenting with features possibly indicative of von Hippel-Lindau (VHL) disease, regardless of other relevant family and clinical details. SETTING AND PARTICIPANTS: Between September 1994 and December 1997, 16 unrelated indivi...

Topics

Genetic Testing
Genotype
Heterozygote
Humans
Mutation, Missense
Phenotype
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
von Hippel-Lindau Disease

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