Preimplantation genetic diagnosis of Von Hippel-Lindau disease cancer syndrome by combined mutation and segregation analysis

Von Hippel-Lindau (VHL) disease is an autosomal dominant cancer syndrome, associated with the development of tumors and cysts in multiple organ systems, whose expression and age of onset are highly variable. The VHL disease tumor suppressor gene (VHL) maps to 3p25-p26 and mutations ranging from a si...

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Bibliographic Details
Main Authors: Denilce R. Sumita, José Cláudio C. Rocha, Assumpto Iaconelli Jr., Edson Borges Jr., Lygia V. Pereira
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2007-03-01
Series:Genetics and Molecular Biology
Subjects:
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000300005