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	Provedor de dados Genet. Mol. Biol. (1) Autor Borges Jr.,Edson (1) Iaconelli Jr.,Assumpto (1) Pereira,Lygia V. (1) Rocha,José Cláudio C. (1) Sumita,Denilce R. (1) Palavra-chave Multiplex PCR (1) Preimplantation genetic diagnosis (1) VHL gene (1) Von Hippel-Lindau disease (1) Tipo do documento Info:eu-repo/semantics/article (1) Ano 2007 (1) País Brazil (1) Idioma Inglês (1)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 1 Primeira ... 1 ... Última Preimplantation genetic diagnosis of Von Hippel-Lindau disease cancer syndrome by combined mutation and segregation analysis Genet. Mol. Biol. Sumita,Denilce R.; Rocha,José Cláudio C.; Iaconelli Jr.,Assumpto; Borges Jr.,Edson; Pereira,Lygia V.. 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 single base change to large deletions have been detected in patients with VHL disease. We developed a single cell PCR protocol for preimplantation genetic diagnosis (PGD) of VHL disease to select unaffected embryos on the basis of the detection of the specific mutation and segregation analysis of polymorphic linked markers. Multiplex-nested PCR using single buccal cells of an affected individual were performed in order to test the accuracy and reliability of this... Tipo: Info:eu-repo/semantics/article Palavras-chave: Multiplex PCR; Preimplantation genetic diagnosis; Von Hippel-Lindau disease; VHL gene. Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000300005 Registros recuperados: 1 Primeira ... 1 ... Última

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