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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Bibliografische gegevens
Hoofdauteurs: Romero, Atocha, Garre, Pilar, Valentin, Olivia, Sanz, Julian, Pérez-Segura, Pedro, Llovet, Patricia, Díaz-Rubio, Eduardo, de la Hoya, Miguel, Caldés, Trinidad
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Public Library of Science 2013
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Research Article
Online toegang: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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