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Genetic flanking markers refine diagnostic criteria and provide insights into the genetics of Von Hippel Lindau disease.

Von Hippel Lindau disease (VHL) is a hereditary syndrome, associated with tumors and cysts in multiple organ systems, whose expression and age of onset are highly variable. The availability of a genetic test for the early and reliable detection of individuals carrying the defective gene would be ben...

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Published in:Proc Natl Acad Sci U S A
Main Authors: Seizinger, B R, Smith, D I, Filling-Katz, M R, Neumann, H, Green, J S, Choyke, P L, Anderson, K M, Freiman, R N, Klauck, S M, Whaley, J
Format: Artigo
Language:Inglês
Published: National Academy of Sciences 1991
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Research Article
Online Access:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC51340/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2011596/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.88.7.2864
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