Frequency and Variability of Genomic Rearrangements on MSH2 in Spanish Lynch Syndrome Families

Large genomic rearrangements (LGRs) in DNA-mismatch-repair (MMR) genes, particularly among MSH2 gene, are frequently involved in the etiology of Lynch syndrome (LS). The Multiplex Ligation and Probe Amplification assay (MLPA) is commonly used to identify such alterations. However, in most cases, the...

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Main Authors: Romero, Atocha, Garre, Pilar, Valentin, Olivia, Sanz, Julian, Pérez-Segura, Pedro, Llovet, Patricia, Díaz-Rubio, Eduardo, de la Hoya, Miguel, Caldés, Trinidad
Formato: Artigo
Idioma:Inglês
Publicado: Public Library of Science 2013
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3770653/
https://ncbi.nlm.nih.gov/pubmed/24039744
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0072195
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