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	Provedor de dados Genet. Mol. Biol. (1) Autor Deissler,Heidrun L. (1) Deissler,Helmut (1) Herman,Sandra (1) Kreienberg,Rolf (1) Varga,Dominic (1) Palavra-chave DNA sequencing (1) Hereditary breast cancer (1) Model calculations (1) Mutation analysis (1) PCR (1) Tipo do documento Info:eu-repo/semantics/article (1) Ano 2012 (1) País Brazil (1) Idioma Inglês (1)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 1 Primeira ... 1 ... Última Medium-sized deletion in the BRCA1 gene: limitations of Sanger sequencing and MLPA analyses Genet. Mol. Biol. Herman,Sandra; Varga,Dominic; Deissler,Heidrun L.; Kreienberg,Rolf; Deissler,Helmut. We describe a family with a history of breast and ovarian cancer in which MLPA analysis of the BRCA1 gene pointed to a deletion including a part of exon 11. Further characterization confirmed a loss of 374 bp in a region completely covered by conventional sequencing which had not revealed the deletion. Because this alteration was only detected serendipitously with an MLPA probe, we calculated the probabilities of detecting medium-sized deletions in large exons by methods including initial PCR amplification. This showed that a considerable fraction of medium-sized deletions are undetectable by currently used standard methods of mutation analyses. We conclude that long, widely overlapping amplicons should be used to minimize the risk of missing medium-sized... Tipo: Info:eu-repo/semantics/article Palavras-chave: Mutation analysis; DNA sequencing; PCR; Hereditary breast cancer; Model calculations. Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000100007 Registros recuperados: 1 Primeira ... 1 ... Última

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